GABA/all
From SNPedia
Contents
Synthesis[edit]
- GAD1/GAD67
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs1978340 | 2 | 170,813,611 | GAD1 | |
rs12185692 | 2 | 170,814,316 | GAD1 | |
rs3791878 | 2 | 170,815,681 | GAD1 | |
rs3762555 | 2 | 170,815,885 | GAD1 | |
rs3749034 | 2 | 170,816,965 | GAD1 | |
rs3749034(C;C) | 2 | 170,816,965 | GAD1 | common in clinvar |
rs121918345 | 2 | 170,818,626 | GAD1 | |
rs121918345(C;C) | 2 | 170,818,626 | GAD1 | common in clinvar |
rs2241165 | 2 | 170,821,869 | GAD1 | |
rs769404 | 2 | 170,822,115 | GAD1 | |
rs11542313 | 2 | 170,822,115 | GAD1 | |
rs769404(T;T) | 2 | 170,822,115 | GAD1 | common in clinvar |
rs3828275(G;G) | 2 | 170,826,230 | GAD1 | common/normal |
rs3828275 | 2 | 170,826,230 | GAD1 | |
rs2058725 | 2 | 170,833,611 | GAD1 | |
rs769390 | 2 | 170,836,945 | GAD1 | |
rs769407 | 2 | 170,837,198 | GAD1 | |
rs769407(G;G) | 2 | 170,837,198 | GAD1 | common/normal |
rs3791851 | 2 | 170,842,162 | GAD1 | |
rs3791850 | 2 | 170,851,590 | GAD1 | |
rs769391 | 2 | 170,852,920 | GAD1 |
- GAD2/GAD65
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs2236418 | 10 | 26,216,567 | GAD2 | |
rs185649317 | 10 | 26,216,756 | GAD2 | |
rs8190590 | 10 | 26,216,765 | GAD2 | |
rs1805398 | 10 | 26,245,880 | GAD2 | |
rs992990 | 10 | 26,278,252 | GAD2 | |
rs8190748 | 10 | 26,280,826 | GAD2 |
Degradation[edit]
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs1731017(T;T) | 16 | 8,746,097 | ABAT | common in clinvar |
rs1731017 | 16 | 8,746,097 | ABAT | |
rs724159992 | 16 | 8,750,498 | ABAT | |
rs724159992(G;G) | 16 | 8,750,498 | ABAT | common in clinvar |
rs724159990(C;C) | 16 | 8,768,220 | ABAT | common in clinvar |
rs724159990 | 16 | 8,768,220 | ABAT | |
rs121434578 | 16 | 8,768,248 | ABAT | |
rs121434578(G;G) | 16 | 8,768,248 | ABAT | common in clinvar |
rs786205496(G;G) | 16 | 8,768,866 | ABAT | common in clinvar |
rs786205496 | 16 | 8,768,866 | ABAT | |
rs1299926 | 16 | 8,777,224 | ABAT | |
rs724159991(T;T) | 16 | 8,781,360 | ABAT | common in clinvar |
rs724159991 | 16 | 8,781,360 | ABAT |
- ALDH5A1 ?
Transporters[edit]
- SLC6A1 (GABA transporter type 1, GAT1)
- SLC6A13 (GABA transporter type 2, GAT2)
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs557881 | 12 | 209,959 | SLC6A12 | |
rs499368 | 12 | 211,754 | SLC6A12 | |
rs555044 | 12 | 226,756 | SLC6A13 | |
rs10774021 | 12 | 240,132 | SLC6A13 | |
rs11613331 | 12 | 242,301 | SLC6A13 | |
rs7969761 | 12 | 246,676 | SLC6A13 |
- SLC6A11 (GABA transporter type 3, GAT3)
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs1809529 | 3 | 10,835,926 | SLC6A11 |
- SLC6A12 (Betaine/GABA transporter, BGT1)
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs557881 | 12 | 209,959 | SLC6A12 | |
rs499368 | 12 | 211,754 | SLC6A12 |
- SLC32A1 (Vesicular inhibitory amino acid transporter, VIAAT)
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs1128745 | 20 | 36,778,627 | SOGA1 |
Receptors[edit]
GABAA[edit]
alpha[edit]
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs6447493 | 4 | 46,040,928 | GABRG1 | |
rs1497571 | 4 | 46,057,233 | GABRG1 | |
rs17536211 | 4 | 46,085,716 | GABRG1 | |
rs497068 | 4 | 46,248,660 | GABRA2 | |
rs279871 | 4 | 46,303,716 | GABRA2 | |
rs279858(A;G) | 4 | 46,312,576 | GABRA2 | None |
rs279858 | 4 | 46,312,576 | GABRA2 | |
rs279858(G;G) | 4 | 46,312,576 | GABRA2 | apparently more prone to alcoholism |
rs279858(A;A) | 4 | 46,312,576 | GABRA2 | None |
rs279844 | 4 | 46,327,638 | GABRA2 | |
rs279845 | 4 | 46,327,706 | GABRA2 | |
rs279826 | 4 | 46,332,192 | GABRA2 | |
rs279827 | 4 | 46,332,685 | GABRA2 | |
rs279828 | 4 | 46,332,793 | GABRA2 | |
rs279836 | 4 | 46,337,053 | GABRA2 | |
rs9291283 | 4 | 46,369,816 | GABRA2 | |
rs11503014 | 4 | 46,388,848 | GABRA2 |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs2072621 | X | 151,177,387 | GPR50 GPR50-AS1 | |
rs1202874 | X | 151,179,756 | GPR50 GPR50-AS1 | |
rs561077 | X | 151,181,177 | GPR50 | |
rs13440581 | X | 151,181,399 | GPR50 | |
rs1149374 | X | 151,221,459 | ||
rs2131190 | X | 152,245,827 | GABRA3 | |
rs750841 | X | 152,297,246 | GABRA3 | |
rs4828696 | X | 152,413,524 | GABRA3 | |
rs3902802 | X | 152,428,729 | GABRA3 |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs9291296 | 4 | 46,920,933 | GABRA4 | |
rs7660336 | 4 | 46,927,651 | GABRA4 | |
rs17599165 | 4 | 46,938,198 | GABRA4 | |
rs17599165(T;T) | 4 | 46,938,198 | GABRA4 | |
rs1912960 | 4 | 46,951,864 | GABRA4 | |
rs1912960(G;G) | 4 | 46,951,864 | GABRA4 | |
rs2280073 | 4 | 46,965,556 | GABRA4 | |
rs2055942 | 4 | 46,966,033 | GABRA4 | |
rs16859788(A;A) | 4 | 46,969,992 | GABRA4 | common in complete genomics |
rs16859788 | 4 | 46,969,992 | GABRA4 | |
rs17599416 | 4 | 46,971,421 | GABRA4 | |
rs16859834(C;C) | 4 | 46,993,349 | GABRA4 | |
rs16859834 | 4 | 46,993,349 | GABRA4 | |
rs2229940 | 4 | 46,993,349 | GABRA4 |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs8030136 | 15 | 24,777,841 | ||
rs2075716 | 15 | 26,869,757 | GABRA5 | |
rs35399885 | 15 | 26,915,388 | GABRA5 | |
rs1106683 | 7 | 131,768,766 | GABRA5 | |
rs1106684 | 7 | 131,768,906 | GABRA5 |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs1992647 | 5 | 161,684,168 | GABRA6 | |
rs3219151 | 5 | 161,701,908 | GABRA6 |
beta[edit]
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs11726563 | 4 | 46,821,617 | COX7B2 | |
rs9291296 | 4 | 46,920,933 | GABRA4 | |
rs7660336 | 4 | 46,927,651 | GABRA4 | |
rs17599165 | 4 | 46,938,198 | GABRA4 | |
rs17599165(T;T) | 4 | 46,938,198 | GABRA4 | |
rs1912960 | 4 | 46,951,864 | GABRA4 | |
rs1912960(G;G) | 4 | 46,951,864 | GABRA4 | |
rs2280073 | 4 | 46,965,556 | GABRA4 | |
rs2055942 | 4 | 46,966,033 | GABRA4 | |
rs16859788(A;A) | 4 | 46,969,992 | GABRA4 | common in complete genomics |
rs16859788 | 4 | 46,969,992 | GABRA4 | |
rs17599416 | 4 | 46,971,421 | GABRA4 | |
rs16859834 | 4 | 46,993,349 | GABRA4 | |
rs2229940 | 4 | 46,993,349 | GABRA4 | |
rs16859834(C;C) | 4 | 46,993,349 | GABRA4 | |
rs2351299(G;G) | 4 | 47,141,348 | GABRB1 | normal risk of autism |
rs2351299(T;T) | 4 | 47,141,348 | GABRB1 | possible reduced risk of autism |
rs2351299(G;T) | 4 | 47,141,348 | GABRB1 | possible reduced risk of Autism |
rs2351299 | 4 | 47,141,348 | GABRB1 | |
rs7435958 | 4 | 47,158,992 | GABRB1 | |
rs2044081 | 4 | 47,216,323 | GABRB1 | |
rs728293 | 4 | 47,355,666 | GABRB1 | |
rs886039817 | 4 | 47,403,613 | GABRB1 | |
rs886039817(T;T) | 4 | 47,403,613 | GABRB1 | common in clinvar |
rs6289 | 4 | 47,406,692 | GABRB1 | |
rs886039818 | 4 | 47,406,706 | GABRB1 | |
rs886039818(C;C) | 4 | 47,406,706 | GABRB1 | common in clinvar |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs2229944(C;C) | 5 | 161,294,312 | GABRB2 | common in clinvar |
rs2229944 | 5 | 161,294,312 | GABRB2 | |
rs187269 | 5 | 161,329,618 | GABRB2 | |
rs886039375 | 5 | 161,331,051 | GABRB2 | |
rs886039375(G;G) | 5 | 161,331,051 | GABRB2 | common in clinvar |
rs1085307993 | 5 | 161,331,056 | GABRB2 | |
rs1085307993(G;G) | 5 | 161,331,056 | GABRB2 | common in clinvar |
rs1064794996 | 5 | 161,331,058 | GABRB2 | |
rs1064794996(A;A) | 5 | 161,331,058 | GABRB2 | common in clinvar |
rs1064793133 | 5 | 161,331,093 | GABRB2 | |
rs1064793133(C;C) | 5 | 161,331,093 | GABRB2 | common in clinvar |
rs1064795444 | 5 | 161,331,097 | GABRB2 | |
rs1064795444(T;T) | 5 | 161,331,097 | GABRB2 | common in clinvar |
rs252944 | 5 | 161,331,330 | GABRB2 | |
rs194072 | 5 | 161,331,648 | GABRB2 | |
rs1816071 | 5 | 161,332,949 | GABRB2 | |
rs1816071(T;C) | 5 | 161,332,949 | GABRB2 | |
rs6556547 | 5 | 161,333,168 | GABRB2 | |
rs869312861 | 5 | 161,334,830 | GABRB2 | |
rs869312861(C;C) | 5 | 161,334,830 | GABRB2 | common in clinvar |
rs1064793551 | 5 | 161,334,847 | GABRB2 | |
rs1064793551(T;T) | 5 | 161,334,847 | GABRB2 | common in clinvar |
rs1057521979 | 5 | 161,411,034 | GABRB2 | |
rs1057521979(T;T) | 5 | 161,411,034 | GABRB2 | common in clinvar |
rs606231468 | 5 | 161,545,228 | GABRB2 | |
rs3811996 | 5 | 161,548,936 | GABRB2 |
gamma[edit]
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs6447493 | 4 | 46,040,928 | GABRG1 | |
rs1497571 | 4 | 46,057,233 | GABRG1 | |
rs17536211 | 4 | 46,085,716 | GABRG1 | |
rs1391166 | 4 | 46,103,850 | GABRG1 | |
rs7654165 | 4 | 46,125,050 | GABRG1 |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs587781223(-;-) | 15 | 25,354,357 | UBE3A | common in clinvar |
rs587781223 | 15 | 25,354,357 | UBE3A | |
rs587781222(D;I) | 15 | 25,354,395 | UBE3A | If from Ancestry DNA, likely to be a miscall |
rs587781222(-;-) | 15 | 25,354,395 | UBE3A | common in clinvar |
rs587781222 | 15 | 25,354,395 | UBE3A | |
rs587781220(G;G) | 15 | 25,354,402 | UBE3A | common in clinvar |
rs587781220 | 15 | 25,354,402 | UBE3A | |
rs587781221 | 15 | 25,354,402 | UBE3A | |
rs587781221(G;G) | 15 | 25,354,402 | UBE3A | common in clinvar |
rs587781220(G;T) | 15 | 25,354,402 | UBE3A | Likely miscall if from Ancestry v2 or LivingDNA data, and now probably 23andMe v5 data also; otherwise, Angelmann mutation |
rs587781221(D;I) | 15 | 25,354,402 | UBE3A | If from Ancestry DNA, likely to be a miscall |
rs587781219 | 15 | 25,354,414 | UBE3A | |
rs587781219(C;C) | 15 | 25,354,414 | UBE3A | common in clinvar |
rs1057518770 | 15 | 25,354,536 | UBE3A | |
rs1057518770(G;G) | 15 | 25,354,536 | UBE3A | common in clinvar |
rs587781218(C;C) | 15 | 25,354,562 | UBE3A | common in clinvar |
rs587781218 | 15 | 25,354,562 | UBE3A | |
rs797046085 | 15 | 25,354,569 | UBE3A | |
rs797046085(-;-) | 15 | 25,354,569 | UBE3A | common in clinvar |
rs587781217 | 15 | 25,354,571 | UBE3A | |
rs587781217(T;T) | 15 | 25,354,571 | UBE3A | common in clinvar |
rs587781216(-;-) | 15 | 25,354,573 | UBE3A | common in clinvar |
rs587781216 | 15 | 25,354,573 | UBE3A | |
rs587781215(-;-) | 15 | 25,354,645 | UBE3A | common in clinvar |
rs587781215 | 15 | 25,354,645 | UBE3A | |
rs587781237(T;T) | 15 | 25,354,679 | UBE3A | common in clinvar |
rs587781237 | 15 | 25,354,679 | UBE3A | |
rs1064795001(G;G) | 15 | 25,354,684 | UBE3A SNHG14 | common in clinvar |
rs1064795001 | 15 | 25,354,684 | UBE3A SNHG14 | |
rs587780580 | 15 | 25,354,685 | UBE3A | |
rs587780580(A;A) | 15 | 25,354,685 | UBE3A | common in clinvar |
rs587781214(C;C) | 15 | 25,355,984 | UBE3A | common in clinvar |
rs587781213 | 15 | 25,355,984 | UBE3A | |
rs587781213(C;C) | 15 | 25,355,984 | UBE3A | common in clinvar |
rs587781214 | 15 | 25,355,984 | UBE3A | |
rs587781236 | 15 | 25,355,989 | UBE3A | |
rs587781236(C;C) | 15 | 25,355,989 | UBE3A | common in clinvar |
rs587781211 | 15 | 25,355,993 | UBE3A | |
rs587781211(CATGATGA;CATGATGA) | 15 | 25,355,993 | UBE3A | common in clinvar |
rs587781212(-;-) | 15 | 25,355,998 | UBE3A | common in clinvar |
rs587781212 | 15 | 25,355,998 | UBE3A | |
rs587781210 | 15 | 25,356,043 | UBE3A | |
rs587781210(AG;AG) | 15 | 25,356,043 | UBE3A | common in clinvar |
rs886039516 | 15 | 25,356,696 | UBE3A | |
rs886039516(TC;TC) | 15 | 25,356,696 | UBE3A | common in clinvar |
rs587781209(I;I) | 15 | 25,356,766 | UBE3A | common genotype |
rs587781209 | 15 | 25,356,766 | UBE3A | |
rs587781209(TACTGGATGTA;TACTGGATGTA) | 15 | 25,356,766 | UBE3A | common in clinvar |
rs864309508(GT;GT) | 15 | 25,356,778 | UBE3A | common in clinvar |
rs864309508 | 15 | 25,356,778 | UBE3A | |
... further results |
other[edit]
- GABRD (delta)
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs2376805(C;C) | 1 | 2,024,923 | GABRD | common in clinvar |
rs2376805 | 1 | 2,024,923 | GABRD | |
rs121434580 | 1 | 2,027,636 | GABRD | |
rs121434580(A;A) | 1 | 2,027,636 | GABRD | common in clinvar |
rs41307846 | 1 | 2,028,260 | GABRD | |
rs41307846(G;G) | 1 | 2,028,260 | GABRD | common in complete genomics |
rs142619552(C;C) | 1 | 2,030,014 | GABRD | common in clinvar |
rs142619552 | 1 | 2,030,014 | GABRD |
- GABRE (epsilon)
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs2256882 | X | 151,961,350 | GABRE MIR452 | |
rs1139916 | X | 151,969,707 | GABRE |
- GABRP (pi)
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs10036156 | 5 | 170,788,634 | GABRP | |
rs11134654 | 5 | 170,813,419 | GABRP |
- GABRQ (theta)
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs3810651 | X | 152,652,814 | GABRQ LOC105373370 |
GABAA-rho[edit]
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs1186902 | 6 | 89,217,243 | GABRR1 | |
rs12200969 | 6 | 89,217,247 | GABRR1 | |
rs404256 | 6 | 89,948,064 | BACH2 | |
rs6917758 | 6 | 89,971,747 | BACH2 |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs282129 | 6 | 89,257,779 | GABRR2 | |
rs9342220 | 6 | 90,062,093 | BACH2 |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs832032 | 3 | 98,007,903 | GABRR3 |
GABAB[edit]
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs2076483 | 6 | 29,603,768 | GABBR1 | |
rs606231121 | 6 | 29,675,420 | ZFP57 | |
rs606231121(AG;AG) | 6 | 29,675,420 | ZFP57 | common in clinvar |
rs3117292 | 6 | 29,684,422 | ||
rs2747442 | 6 | 29,685,409 | ||
rs3117294 | 6 | 29,685,552 | ||
rs3129055 | 6 | 29,702,484 | ||
rs9258122 | 6 | 29,703,963 | ||
rs3131866 | 6 | 29,703,963 |
On chromosome | Chromosome position | In gene | Summary | |
---|---|---|---|---|
rs1435252 | 9 | 98,341,309 | GABBR2 | |
rs10986018 | 9 | 98,361,054 | GABBR2 | |
rs922847767 | 9 | 98,371,535 | GABBR2 | |
rs3780422 | 9 | 98,380,522 | GABBR2 | |
rs2491397 | 9 | 98,442,880 | GABBR2 | |
rs2779551 | 9 | 98,490,944 | GABBR2 | |
rs2779562 | 9 | 98,515,399 | GABBR2 | |
rs2808566 | 9 | 98,515,611 | GABBR2 | |
rs2184026 | 9 | 98,542,066 | GABBR2 | |
rs2184026(C;C) | 9 | 98,542,066 | GABBR2 | common in complete genomics |
rs2900512 | 9 | 98,555,639 | GABBR2 | |
rs2808530 | 9 | 98,576,823 | GABBR2 | |
rs3750344(A;A) | 9 | 98,578,034 | GABBR2 | common in complete genomics |
rs3750344 | 9 | 98,578,034 | GABBR2 | |
rs10989019 | 9 | 100,214,259 | INVS | |
rs886042844(-;-) | 9 | 100,240,106 | INVS | common in clinvar |
rs886042844 | 9 | 100,240,106 | INVS | |
rs2491097(C;C) | 9 | 100,240,169 | INVS | common on affy axiom data |
rs2491097 | 9 | 100,240,169 | INVS | |
rs878855332(G;G) | 9 | 100,253,089 | INVS | common in clinvar |
rs878855332 | 9 | 100,253,089 | INVS | |
rs121964995 | 9 | 100,264,835 | INVS | |
rs121964995(T;T) | 9 | 100,264,835 | INVS | common in clinvar |
rs121964994 | 9 | 100,284,342 | INVS | |
rs121964994(C;C) | 9 | 100,284,342 | INVS | common in clinvar |
rs755549444 | 9 | 100,292,766 | INVS | |
rs755549444(C;C) | 9 | 100,292,766 | INVS | common in clinvar |
rs200844390(C;C) | 9 | 100,292,952 | INVS | common in clinvar |
rs200844390 | 9 | 100,292,952 | INVS | |
rs267607185(C;T) | 9 | 100,292,976 | INVS | Carrier of an infantile nephronophthisis mutation |
rs267607185 | 9 | 100,292,976 | INVS | |
rs267607185(C;C) | 9 | 100,292,976 | INVS | common in clinvar |
rs376879175(C;C) | 9 | 100,293,039 | INVS | common in clinvar |
rs376879175 | 9 | 100,293,039 | INVS | |
rs878855333(A;A) | 9 | 100,300,601 | INVS | common in clinvar |
rs878855333 | 9 | 100,300,601 | INVS |