rs886041005
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs886041005(A;A) |
Make rs886041005(A;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 108896970 |
Gene | EDAR, RANBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs886041005 |
dbSNP (classic) | rs886041005 |
ClinGen | rs886041005 |
ebi | rs886041005 |
HLI | rs886041005 |
Exac | rs886041005 |
Gnomad | rs886041005 |
Varsome | rs886041005 |
LitVar | rs886041005 |
Map | rs886041005 |
PheGenI | rs886041005 |
Biobank | rs886041005 |
1000 genomes | rs886041005 |
hgdp | rs886041005 |
ensembl | rs886041005 |
geneview | rs886041005 |
scholar | rs886041005 |
rs886041005 | |
pharmgkb | rs886041005 |
gwascentral | rs886041005 |
openSNP | rs886041005 |
23andMe | rs886041005 |
SNPshot | rs886041005 |
SNPdbe | rs886041005 |
MSV3d | rs886041005 |
GWAS Ctlg | rs886041005 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041005(A;A) rs886041005(G;G) |
Alt | rs886041005(A;A) rs886041005(G;G) |
Reference | Rs886041005(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided Autosomal dominant hypohidrotic ectodermal dysplasia |
Variation | info |
Gene | EDAR |
CLNDBN | not provided Autosomal dominant hypohidrotic ectodermal dysplasia |
Reversed | 1 |
HGVS | NC_000002.11:g.109513426A>C; NC_000002.11:g.109513426A>T |
CLNSRC | |
CLNACC | RCV000481594.1, RCV000258329.1, |