rs1060499610
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499610(-;-) |
Make rs1060499610(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 108929270 |
Gene | EDAR, RANBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499610 |
dbSNP (classic) | rs1060499610 |
ClinGen | rs1060499610 |
ebi | rs1060499610 |
HLI | rs1060499610 |
Exac | rs1060499610 |
Gnomad | rs1060499610 |
Varsome | rs1060499610 |
LitVar | rs1060499610 |
Map | rs1060499610 |
PheGenI | rs1060499610 |
Biobank | rs1060499610 |
1000 genomes | rs1060499610 |
hgdp | rs1060499610 |
ensembl | rs1060499610 |
geneview | rs1060499610 |
scholar | rs1060499610 |
rs1060499610 | |
pharmgkb | rs1060499610 |
gwascentral | rs1060499610 |
openSNP | rs1060499610 |
23andMe | rs1060499610 |
SNPshot | rs1060499610 |
SNPdbe | rs1060499610 |
MSV3d | rs1060499610 |
GWAS Ctlg | rs1060499610 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499610(-;-) |
Alt | rs1060499610(-;-) |
Reference | Rs1060499610(G;G) |
Significance | Pathogenic |
Disease | Autosomal dominant hypohidrotic ectodermal dysplasia |
Variation | info |
Gene | EDAR |
CLNDBN | Autosomal dominant hypohidrotic ectodermal dysplasia |
Reversed | 1 |
HGVS | NC_000002.11:g.109545726delC |
CLNSRC | |
CLNACC | RCV000477893.1, |