rs121965088
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121965088(C;T) |
Make rs121965088(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 14158148 |
Gene | XPC |
is a | snp |
is | mentioned by |
dbSNP | rs121965088 |
dbSNP (classic) | rs121965088 |
ClinGen | rs121965088 |
ebi | rs121965088 |
HLI | rs121965088 |
Exac | rs121965088 |
Gnomad | rs121965088 |
Varsome | rs121965088 |
LitVar | rs121965088 |
Map | rs121965088 |
PheGenI | rs121965088 |
Biobank | rs121965088 |
1000 genomes | rs121965088 |
hgdp | rs121965088 |
ensembl | rs121965088 |
geneview | rs121965088 |
scholar | rs121965088 |
rs121965088 | |
pharmgkb | rs121965088 |
gwascentral | rs121965088 |
openSNP | rs121965088 |
23andMe | rs121965088 |
SNPshot | rs121965088 |
SNPdbe | rs121965088 |
MSV3d | rs121965088 |
GWAS Ctlg | rs121965088 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965088(T;T) |
Alt | rs121965088(T;T) |
Reference | Rs121965088(C;C) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | XPC |
CLNDBN | Xeroderma pigmentosum, group C |
Reversed | 1 |
HGVS | NC_000003.11:g.14199648G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000283.2, |