rs281797260
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281797260(C;C) |
Make rs281797260(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 37977943 |
Gene | POLR2F, SOX10 |
is a | snp |
is | mentioned by |
dbSNP | rs281797260 |
dbSNP (classic) | rs281797260 |
ClinGen | rs281797260 |
ebi | rs281797260 |
HLI | rs281797260 |
Exac | rs281797260 |
Gnomad | rs281797260 |
Varsome | rs281797260 |
LitVar | rs281797260 |
Map | rs281797260 |
PheGenI | rs281797260 |
Biobank | rs281797260 |
1000 genomes | rs281797260 |
hgdp | rs281797260 |
ensembl | rs281797260 |
geneview | rs281797260 |
scholar | rs281797260 |
rs281797260 | |
pharmgkb | rs281797260 |
gwascentral | rs281797260 |
openSNP | rs281797260 |
23andMe | rs281797260 |
SNPshot | rs281797260 |
SNPdbe | rs281797260 |
MSV3d | rs281797260 |
GWAS Ctlg | rs281797260 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281797260(C;C) |
Alt | rs281797260(C;C) |
Reference | Rs281797260(G;G) |
Significance | Pathogenic |
Disease | Waardenburg syndrome type 4C |
Variation | info |
Gene | SOX10 POLR2F |
CLNDBN | Waardenburg syndrome type 4C |
Reversed | 0 |
HGVS | NC_000022.10:g.38373950G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007825.3, |