rs397515370
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397515370(A;C) |
Make rs397515370(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 37974200 |
Gene | POLR2F, SOX10 |
is a | snp |
is | mentioned by |
dbSNP | rs397515370 |
dbSNP (classic) | rs397515370 |
ClinGen | rs397515370 |
ebi | rs397515370 |
HLI | rs397515370 |
Exac | rs397515370 |
Gnomad | rs397515370 |
Varsome | rs397515370 |
LitVar | rs397515370 |
Map | rs397515370 |
PheGenI | rs397515370 |
Biobank | rs397515370 |
1000 genomes | rs397515370 |
hgdp | rs397515370 |
ensembl | rs397515370 |
geneview | rs397515370 |
scholar | rs397515370 |
rs397515370 | |
pharmgkb | rs397515370 |
gwascentral | rs397515370 |
openSNP | rs397515370 |
23andMe | rs397515370 |
SNPshot | rs397515370 |
SNPdbe | rs397515370 |
MSV3d | rs397515370 |
GWAS Ctlg | rs397515370 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515370(C;C) |
Alt | rs397515370(C;C) |
Reference | Rs397515370(A;A) |
Significance | Pathogenic |
Disease | Waardenburg syndrome type 2E |
Variation | info |
Gene | SOX10 POLR2F |
CLNDBN | Waardenburg syndrome type 2E, with neurologic involvement |
Reversed | 1 |
HGVS | NC_000022.10:g.38370207T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007834.4, |