rs201636911
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201636911(A;A) |
Make rs201636911(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 107661783 |
Gene | SLC26A4, SLC26A4-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs201636911 |
dbSNP (classic) | rs201636911 |
ClinGen | rs201636911 |
ebi | rs201636911 |
HLI | rs201636911 |
Exac | rs201636911 |
Gnomad | rs201636911 |
Varsome | rs201636911 |
LitVar | rs201636911 |
Map | rs201636911 |
PheGenI | rs201636911 |
Biobank | rs201636911 |
1000 genomes | rs201636911 |
hgdp | rs201636911 |
ensembl | rs201636911 |
geneview | rs201636911 |
scholar | rs201636911 |
rs201636911 | |
pharmgkb | rs201636911 |
gwascentral | rs201636911 |
openSNP | rs201636911 |
23andMe | rs201636911 |
SNPshot | rs201636911 |
SNPdbe | rs201636911 |
MSV3d | rs201636911 |
GWAS Ctlg | rs201636911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201636911(A;A) rs201636911(T;T) |
Alt | rs201636911(A;A) rs201636911(T;T) |
Reference | Rs201636911(G;G) |
Significance | Probable-Pathogenic |
Disease | Pendred's syndrome |
Variation | info |
Gene | SLC26A4-AS1 SLC26A4 |
CLNDBN | Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107302228G>T |
CLNSRC | |
CLNACC | RCV000409402.1, |