rs797044436
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAGA;AAGA) | 0 | common in clinvar |
Make rs797044436(-;-) |
Make rs797044436(-;AAGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 108910784 |
Gene | EDAR, RANBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044436 |
dbSNP (classic) | rs797044436 |
ClinGen | rs797044436 |
ebi | rs797044436 |
HLI | rs797044436 |
Exac | rs797044436 |
Gnomad | rs797044436 |
Varsome | rs797044436 |
LitVar | rs797044436 |
Map | rs797044436 |
PheGenI | rs797044436 |
Biobank | rs797044436 |
1000 genomes | rs797044436 |
hgdp | rs797044436 |
ensembl | rs797044436 |
geneview | rs797044436 |
scholar | rs797044436 |
rs797044436 | |
pharmgkb | rs797044436 |
gwascentral | rs797044436 |
openSNP | rs797044436 |
23andMe | rs797044436 |
SNPshot | rs797044436 |
SNPdbe | rs797044436 |
MSV3d | rs797044436 |
GWAS Ctlg | rs797044436 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044436(-;-) |
Alt | rs797044436(-;-) |
Reference | Rs797044436(AAGA;AAGA) |
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.109527240_109527243delTCTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006217.3, |