rs2470353
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2470353(C;C) |
Make rs2470353(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 14148768 |
Gene | LOC107986063, XPC |
is a | snp |
is | mentioned by |
dbSNP | rs2470353 |
dbSNP (classic) | rs2470353 |
ClinGen | rs2470353 |
ebi | rs2470353 |
HLI | rs2470353 |
Exac | rs2470353 |
Gnomad | rs2470353 |
Varsome | rs2470353 |
LitVar | rs2470353 |
Map | rs2470353 |
PheGenI | rs2470353 |
Biobank | rs2470353 |
1000 genomes | rs2470353 |
hgdp | rs2470353 |
ensembl | rs2470353 |
geneview | rs2470353 |
scholar | rs2470353 |
rs2470353 | |
pharmgkb | rs2470353 |
gwascentral | rs2470353 |
openSNP | rs2470353 |
23andMe | rs2470353 |
SNPshot | rs2470353 |
SNPdbe | rs2470353 |
MSV3d | rs2470353 |
GWAS Ctlg | rs2470353 |
GMAF | 0.3324 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2470353(A;A) rs2470353(C;C) rs2470353(T;T) |
Alt | rs2470353(A;A) rs2470353(C;C) rs2470353(T;T) |
Reference | Rs2470353(G;G) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | XPC |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.14190268G>C |
CLNSRC | |
CLNACC | RCV000248907.1, |
[PMID 21273643] In vitro functional effects of XPC gene rare variants from bladder cancer patients.