rs397516666
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC;AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC) | 0 | common in clinvar |
(GGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA;GGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA) | 0 | common in clinvar |
Make rs397516666(-;-) |
Make rs397516666(-;AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 70027883 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs397516666 |
dbSNP (classic) | rs397516666 |
ClinGen | rs397516666 |
ebi | rs397516666 |
HLI | rs397516666 |
Exac | rs397516666 |
Gnomad | rs397516666 |
Varsome | rs397516666 |
LitVar | rs397516666 |
Map | rs397516666 |
PheGenI | rs397516666 |
Biobank | rs397516666 |
1000 genomes | rs397516666 |
hgdp | rs397516666 |
ensembl | rs397516666 |
geneview | rs397516666 |
scholar | rs397516666 |
rs397516666 | |
pharmgkb | rs397516666 |
gwascentral | rs397516666 |
openSNP | rs397516666 |
23andMe | rs397516666 |
SNPshot | rs397516666 |
SNPdbe | rs397516666 |
MSV3d | rs397516666 |
GWAS Ctlg | rs397516666 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516666(-;-) |
Alt | rs397516666(-;-) |
Reference | Rs397516666(GGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA;GGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA) |
Significance | Pathogenic |
Disease | Hypohidrotic ectodermal dysplasia |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic ectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000023.10:g.69247733_69247768del36 |
CLNSRC | ClinVar |
CLNACC | RCV000037176.3, |