rs121908116
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121908116(G;G) |
Make rs121908116(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 236482366 |
Gene | EDARADD |
is a | snp |
is | mentioned by |
dbSNP | rs121908116 |
dbSNP (classic) | rs121908116 |
ClinGen | rs121908116 |
ebi | rs121908116 |
HLI | rs121908116 |
Exac | rs121908116 |
Gnomad | rs121908116 |
Varsome | rs121908116 |
LitVar | rs121908116 |
Map | rs121908116 |
PheGenI | rs121908116 |
Biobank | rs121908116 |
1000 genomes | rs121908116 |
hgdp | rs121908116 |
ensembl | rs121908116 |
geneview | rs121908116 |
scholar | rs121908116 |
rs121908116 | |
pharmgkb | rs121908116 |
gwascentral | rs121908116 |
openSNP | rs121908116 |
23andMe | rs121908116 |
SNPshot | rs121908116 |
SNPdbe | rs121908116 |
MSV3d | rs121908116 |
GWAS Ctlg | rs121908116 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908116(G;G) |
Alt | rs121908116(G;G) |
Reference | Rs121908116(T;T) |
Significance | Pathogenic |
Disease | Ectodermal dysplasia 11a Autosomal dominant hypohidrotic ectodermal dysplasia |
Variation | info |
Gene | EDARADD |
CLNDBN | Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Autosomal dominant hypohidrotic ectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000001.10:g.236645666T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004408.3, RCV000055985.1, |