rs397516665
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC;CAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC) | 0 | common in clinvar |
(TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC;TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC) | 0 | common in clinvar |
Make rs397516665(-;-) |
Make rs397516665(-;TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 70027876 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs397516665 |
dbSNP (classic) | rs397516665 |
ClinGen | rs397516665 |
ebi | rs397516665 |
HLI | rs397516665 |
Exac | rs397516665 |
Gnomad | rs397516665 |
Varsome | rs397516665 |
LitVar | rs397516665 |
Map | rs397516665 |
PheGenI | rs397516665 |
Biobank | rs397516665 |
1000 genomes | rs397516665 |
hgdp | rs397516665 |
ensembl | rs397516665 |
geneview | rs397516665 |
scholar | rs397516665 |
rs397516665 | |
pharmgkb | rs397516665 |
gwascentral | rs397516665 |
openSNP | rs397516665 |
23andMe | rs397516665 |
SNPshot | rs397516665 |
SNPdbe | rs397516665 |
MSV3d | rs397516665 |
GWAS Ctlg | rs397516665 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516665(-;-) |
Alt | rs397516665(-;-) |
Reference | Rs397516665(CAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC;CAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC) |
Significance | Pathogenic |
Disease | Hypohidrotic ectodermal dysplasia |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic ectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000023.10:g.69247726_69247761del36 |
CLNSRC | ClinVar |
CLNACC | RCV000037175.3, |