rs747806672
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs747806672(C;T) |
Make rs747806672(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 108897110 |
Gene | EDAR, RANBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs747806672 |
dbSNP (classic) | rs747806672 |
ClinGen | rs747806672 |
ebi | rs747806672 |
HLI | rs747806672 |
Exac | rs747806672 |
Gnomad | rs747806672 |
Varsome | rs747806672 |
LitVar | rs747806672 |
Map | rs747806672 |
PheGenI | rs747806672 |
Biobank | rs747806672 |
1000 genomes | rs747806672 |
hgdp | rs747806672 |
ensembl | rs747806672 |
geneview | rs747806672 |
scholar | rs747806672 |
rs747806672 | |
pharmgkb | rs747806672 |
gwascentral | rs747806672 |
openSNP | rs747806672 |
23andMe | rs747806672 |
SNPshot | rs747806672 |
SNPdbe | rs747806672 |
MSV3d | rs747806672 |
GWAS Ctlg | rs747806672 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747806672(T;T) |
Alt | rs747806672(T;T) |
Reference | Rs747806672(C;C) |
Significance | Pathogenic |
Disease | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome not provided |
Variation | info |
Gene | EDAR |
CLNDBN | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.109513566C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000174400.1, RCV000255133.1, |