rs1057516658
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516658(A;A) |
Make rs1057516658(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 107663380 |
Gene | SLC26A4, SLC26A4-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516658 |
dbSNP (classic) | rs1057516658 |
ClinGen | rs1057516658 |
ebi | rs1057516658 |
HLI | rs1057516658 |
Exac | rs1057516658 |
Gnomad | rs1057516658 |
Varsome | rs1057516658 |
LitVar | rs1057516658 |
Map | rs1057516658 |
PheGenI | rs1057516658 |
Biobank | rs1057516658 |
1000 genomes | rs1057516658 |
hgdp | rs1057516658 |
ensembl | rs1057516658 |
geneview | rs1057516658 |
scholar | rs1057516658 |
rs1057516658 | |
pharmgkb | rs1057516658 |
gwascentral | rs1057516658 |
openSNP | rs1057516658 |
23andMe | rs1057516658 |
SNPshot | rs1057516658 |
SNPdbe | rs1057516658 |
MSV3d | rs1057516658 |
GWAS Ctlg | rs1057516658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516658(A;A) |
Alt | rs1057516658(A;A) |
Reference | Rs1057516658(G;G) |
Significance | Pathogenic |
Disease | Pendred's syndrome |
Variation | info |
Gene | SLC26A4-AS1 SLC26A4 |
CLNDBN | Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107303825G>A |
CLNSRC | |
CLNACC | RCV000409492.1, |