rs794729657
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794729657(A;G) |
Make rs794729657(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 14168404 |
Gene | XPC |
is a | snp |
is | mentioned by |
dbSNP | rs794729657 |
dbSNP (classic) | rs794729657 |
ClinGen | rs794729657 |
ebi | rs794729657 |
HLI | rs794729657 |
Exac | rs794729657 |
Gnomad | rs794729657 |
Varsome | rs794729657 |
LitVar | rs794729657 |
Map | rs794729657 |
PheGenI | rs794729657 |
Biobank | rs794729657 |
1000 genomes | rs794729657 |
hgdp | rs794729657 |
ensembl | rs794729657 |
geneview | rs794729657 |
scholar | rs794729657 |
rs794729657 | |
pharmgkb | rs794729657 |
gwascentral | rs794729657 |
openSNP | rs794729657 |
23andMe | rs794729657 |
SNPshot | rs794729657 |
SNPdbe | rs794729657 |
MSV3d | rs794729657 |
GWAS Ctlg | rs794729657 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729657(C;C) rs794729657(G;G) |
Alt | rs794729657(C;C) rs794729657(G;G) |
Reference | Rs794729657(A;A) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | XPC |
CLNDBN | Xeroderma pigmentosum, group C |
Reversed | 1 |
HGVS | NC_000003.11:g.14209904T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000285.2, |