rs2993763
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2993763(A;A) |
Make rs2993763(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 80273838 |
Gene | MAT1A |
is a | snp |
is | mentioned by |
dbSNP | rs2993763 |
dbSNP (classic) | rs2993763 |
ClinGen | rs2993763 |
ebi | rs2993763 |
HLI | rs2993763 |
Exac | rs2993763 |
Gnomad | rs2993763 |
Varsome | rs2993763 |
LitVar | rs2993763 |
Map | rs2993763 |
PheGenI | rs2993763 |
Biobank | rs2993763 |
1000 genomes | rs2993763 |
hgdp | rs2993763 |
ensembl | rs2993763 |
geneview | rs2993763 |
scholar | rs2993763 |
rs2993763 | |
pharmgkb | rs2993763 |
gwascentral | rs2993763 |
openSNP | rs2993763 |
23andMe | rs2993763 |
SNPshot | rs2993763 |
SNPdbe | rs2993763 |
MSV3d | rs2993763 |
GWAS Ctlg | rs2993763 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
rs2993763 is a SNP in the MAT1A gene on chromosome 10.
ClinVar | |
---|---|
Risk | rs2993763(A;A) |
Alt | rs2993763(A;A) |
Reference | Rs2993763(G;G) |
Significance | Non-pathogenic |
Disease | not specified Hepatic methionine adenosyltransferase deficiency |
Variation | info |
Gene | MAT1A |
CLNDBN | not specified Hepatic methionine adenosyltransferase deficiency |
Reversed | 0 |
HGVS | NC_000010.10:g.82033594G>A |
CLNSRC | |
CLNACC | RCV000247170.1, RCV000330172.1, |