rs267606778
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267606778(A;G) |
Make rs267606778(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 59301692 |
Gene | EDN3 |
is a | snp |
is | mentioned by |
dbSNP | rs267606778 |
dbSNP (classic) | rs267606778 |
ClinGen | rs267606778 |
ebi | rs267606778 |
HLI | rs267606778 |
Exac | rs267606778 |
Gnomad | rs267606778 |
Varsome | rs267606778 |
LitVar | rs267606778 |
Map | rs267606778 |
PheGenI | rs267606778 |
Biobank | rs267606778 |
1000 genomes | rs267606778 |
hgdp | rs267606778 |
ensembl | rs267606778 |
geneview | rs267606778 |
scholar | rs267606778 |
rs267606778 | |
pharmgkb | rs267606778 |
gwascentral | rs267606778 |
openSNP | rs267606778 |
23andMe | rs267606778 |
SNPshot | rs267606778 |
SNPdbe | rs267606778 |
MSV3d | rs267606778 |
GWAS Ctlg | rs267606778 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606778(G;G) |
Alt | rs267606778(G;G) |
Reference | Rs267606778(A;A) |
Significance | Pathogenic |
Disease | Waardenburg syndrome type 4B |
Variation | info |
Gene | EDN3 |
CLNDBN | Waardenburg syndrome type 4B |
Reversed | 0 |
HGVS | NC_000020.10:g.57876747A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018130.28, |