rs74315309
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315309(A;A) |
Make rs74315309(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 236482455 |
Gene | EDARADD |
is a | snp |
is | mentioned by |
dbSNP | rs74315309 |
dbSNP (classic) | rs74315309 |
ClinGen | rs74315309 |
ebi | rs74315309 |
HLI | rs74315309 |
Exac | rs74315309 |
Gnomad | rs74315309 |
Varsome | rs74315309 |
LitVar | rs74315309 |
Map | rs74315309 |
PheGenI | rs74315309 |
Biobank | rs74315309 |
1000 genomes | rs74315309 |
hgdp | rs74315309 |
ensembl | rs74315309 |
geneview | rs74315309 |
scholar | rs74315309 |
rs74315309 | |
pharmgkb | rs74315309 |
gwascentral | rs74315309 |
openSNP | rs74315309 |
23andMe | rs74315309 |
SNPshot | rs74315309 |
SNPdbe | rs74315309 |
MSV3d | rs74315309 |
GWAS Ctlg | rs74315309 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315309(A;A) |
Alt | rs74315309(A;A) |
Reference | Rs74315309(G;G) |
Significance | Pathogenic |
Disease | Ectodermal dysplasia 11b Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Variation | info |
Gene | EDARADD |
CLNDBN | Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.236645755G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004407.2, RCV000055987.1, |