rs966365
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(T;T) | 0 | common in complete genomics |
Make rs966365(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 236394471 |
Gene | EDARADD |
is a | snp |
is | mentioned by |
dbSNP | rs966365 |
dbSNP (classic) | rs966365 |
ClinGen | rs966365 |
ebi | rs966365 |
HLI | rs966365 |
Exac | rs966365 |
Gnomad | rs966365 |
Varsome | rs966365 |
LitVar | rs966365 |
Map | rs966365 |
PheGenI | rs966365 |
Biobank | rs966365 |
1000 genomes | rs966365 |
hgdp | rs966365 |
ensembl | rs966365 |
geneview | rs966365 |
scholar | rs966365 |
rs966365 | |
pharmgkb | rs966365 |
gwascentral | rs966365 |
openSNP | rs966365 |
23andMe | rs966365 |
SNPshot | rs966365 |
SNPdbe | rs966365 |
MSV3d | rs966365 |
GWAS Ctlg | rs966365 |
GMAF | 0.2323 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs966365(A;A) Rs966365(T;T) |
Alt | rs966365(A;A) Rs966365(T;T) |
Reference | Rs966365(C;C) |
Significance | Non-pathogenic |
Disease | not specified Hypohidrotic Ectodermal Dysplasia |
Variation | info |
Gene | EDARADD |
CLNDBN | not specified Hypohidrotic Ectodermal Dysplasia, Recessive |
Reversed | 1 |
HGVS | NC_000001.10:g.236557771G>A |
CLNSRC | |
CLNACC | RCV000249322.1, RCV000262285.1, |