rs1057516500
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516500(C;C) |
Make rs1057516500(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 19664947 |
Gene | ALDH3A2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516500 |
dbSNP (classic) | rs1057516500 |
ClinGen | rs1057516500 |
ebi | rs1057516500 |
HLI | rs1057516500 |
Exac | rs1057516500 |
Gnomad | rs1057516500 |
Varsome | rs1057516500 |
LitVar | rs1057516500 |
Map | rs1057516500 |
PheGenI | rs1057516500 |
Biobank | rs1057516500 |
1000 genomes | rs1057516500 |
hgdp | rs1057516500 |
ensembl | rs1057516500 |
geneview | rs1057516500 |
scholar | rs1057516500 |
rs1057516500 | |
pharmgkb | rs1057516500 |
gwascentral | rs1057516500 |
openSNP | rs1057516500 |
23andMe | rs1057516500 |
SNPshot | rs1057516500 |
SNPdbe | rs1057516500 |
MSV3d | rs1057516500 |
GWAS Ctlg | rs1057516500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516500(C;C) rs1057516500(T;T) |
Alt | rs1057516500(C;C) rs1057516500(T;T) |
Reference | Rs1057516500(G;G) |
Significance | Pathogenic |
Disease | Sjögren-Larsson syndrome |
Variation | info |
Gene | ALDH3A2 |
CLNDBN | Sjögren-Larsson syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.19568260G>C; NC_000017.10:g.19568260G>T |
CLNSRC | |
CLNACC | RCV000411369.1, RCV000410648.1, |