rs797044435
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044435(A;A) |
Make rs797044435(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 108930963 |
Gene | EDAR, RANBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044435 |
dbSNP (classic) | rs797044435 |
ClinGen | rs797044435 |
ebi | rs797044435 |
HLI | rs797044435 |
Exac | rs797044435 |
Gnomad | rs797044435 |
Varsome | rs797044435 |
LitVar | rs797044435 |
Map | rs797044435 |
PheGenI | rs797044435 |
Biobank | rs797044435 |
1000 genomes | rs797044435 |
hgdp | rs797044435 |
ensembl | rs797044435 |
geneview | rs797044435 |
scholar | rs797044435 |
rs797044435 | |
pharmgkb | rs797044435 |
gwascentral | rs797044435 |
openSNP | rs797044435 |
23andMe | rs797044435 |
SNPshot | rs797044435 |
SNPdbe | rs797044435 |
MSV3d | rs797044435 |
GWAS Ctlg | rs797044435 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044435(A;A) |
Alt | rs797044435(A;A) |
Reference | Rs797044435(G;G) |
Significance | Pathogenic |
Disease | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Variation | info |
Gene | EDAR |
CLNDBN | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.109547419C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006212.4, |