rs786205868
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205868(C;T) |
Make rs786205868(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 3518644 |
Gene | TRPV3 |
is a | snp |
is | mentioned by |
dbSNP | rs786205868 |
dbSNP (classic) | rs786205868 |
ClinGen | rs786205868 |
ebi | rs786205868 |
HLI | rs786205868 |
Exac | rs786205868 |
Gnomad | rs786205868 |
Varsome | rs786205868 |
LitVar | rs786205868 |
Map | rs786205868 |
PheGenI | rs786205868 |
Biobank | rs786205868 |
1000 genomes | rs786205868 |
hgdp | rs786205868 |
ensembl | rs786205868 |
geneview | rs786205868 |
scholar | rs786205868 |
rs786205868 | |
pharmgkb | rs786205868 |
gwascentral | rs786205868 |
openSNP | rs786205868 |
23andMe | rs786205868 |
SNPshot | rs786205868 |
SNPdbe | rs786205868 |
MSV3d | rs786205868 |
GWAS Ctlg | rs786205868 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205868(T;T) |
Alt | rs786205868(T;T) |
Reference | Rs786205868(C;C) |
Significance | Pathogenic |
Disease | Palmoplantar keratoderma |
Variation | info |
Gene | TRPV3 |
CLNDBN | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques |
Reversed | 1 |
HGVS | NC_000017.10:g.3421938G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172845.2, |