rs121908456
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908456(G;T) |
Make rs121908456(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 108897194 |
Gene | EDAR, RANBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs121908456 |
dbSNP (classic) | rs121908456 |
ClinGen | rs121908456 |
ebi | rs121908456 |
HLI | rs121908456 |
Exac | rs121908456 |
Gnomad | rs121908456 |
Varsome | rs121908456 |
LitVar | rs121908456 |
Map | rs121908456 |
PheGenI | rs121908456 |
Biobank | rs121908456 |
1000 genomes | rs121908456 |
hgdp | rs121908456 |
ensembl | rs121908456 |
geneview | rs121908456 |
scholar | rs121908456 |
rs121908456 | |
pharmgkb | rs121908456 |
gwascentral | rs121908456 |
openSNP | rs121908456 |
23andMe | rs121908456 |
SNPshot | rs121908456 |
SNPdbe | rs121908456 |
MSV3d | rs121908456 |
GWAS Ctlg | rs121908456 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908456(T;T) |
Alt | rs121908456(T;T) |
Reference | Rs121908456(G;G) |
Significance | Pathogenic |
Disease | Ectodermal dysplasia 10a |
Variation | info |
Gene | EDAR |
CLNDBN | Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
Reversed | 1 |
HGVS | NC_000002.11:g.109513650C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006215.4, |