rs794729654
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs794729654(-;-) |
Make rs794729654(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 14158590 |
Gene | XPC |
is a | snp |
is | mentioned by |
dbSNP | rs794729654 |
dbSNP (classic) | rs794729654 |
ClinGen | rs794729654 |
ebi | rs794729654 |
HLI | rs794729654 |
Exac | rs794729654 |
Gnomad | rs794729654 |
Varsome | rs794729654 |
LitVar | rs794729654 |
Map | rs794729654 |
PheGenI | rs794729654 |
Biobank | rs794729654 |
1000 genomes | rs794729654 |
hgdp | rs794729654 |
ensembl | rs794729654 |
geneview | rs794729654 |
scholar | rs794729654 |
rs794729654 | |
pharmgkb | rs794729654 |
gwascentral | rs794729654 |
openSNP | rs794729654 |
23andMe | rs794729654 |
SNPshot | rs794729654 |
SNPdbe | rs794729654 |
MSV3d | rs794729654 |
GWAS Ctlg | rs794729654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729654(-;-) |
Alt | rs794729654(-;-) |
Reference | Rs794729654(AA;AA) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | XPC |
CLNDBN | Xeroderma pigmentosum, group C |
Reversed | 1 |
HGVS | NC_000003.11:g.14200090_14200091delTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000280.2, |