rs1060503690
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060503690(G;T) |
Make rs1060503690(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 66526708 |
Gene | BBS1, ZDHHC24 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503690 |
dbSNP (classic) | rs1060503690 |
ClinGen | rs1060503690 |
ebi | rs1060503690 |
HLI | rs1060503690 |
Exac | rs1060503690 |
Gnomad | rs1060503690 |
Varsome | rs1060503690 |
LitVar | rs1060503690 |
Map | rs1060503690 |
PheGenI | rs1060503690 |
Biobank | rs1060503690 |
1000 genomes | rs1060503690 |
hgdp | rs1060503690 |
ensembl | rs1060503690 |
geneview | rs1060503690 |
scholar | rs1060503690 |
rs1060503690 | |
pharmgkb | rs1060503690 |
gwascentral | rs1060503690 |
openSNP | rs1060503690 |
23andMe | rs1060503690 |
SNPshot | rs1060503690 |
SNPdbe | rs1060503690 |
MSV3d | rs1060503690 |
GWAS Ctlg | rs1060503690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503690(T;T) |
Alt | rs1060503690(T;T) |
Reference | Rs1060503690(G;G) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 ZDHHC24 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66294179G>T |
CLNSRC | |
CLNACC | RCV000466299.1, |