rs2020955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs2020955(C;C) |
Make rs2020955(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 13944802 |
Gene | ERCC4 |
is a | snp |
is | mentioned by |
dbSNP | rs2020955 |
dbSNP (classic) | rs2020955 |
ClinGen | rs2020955 |
ebi | rs2020955 |
HLI | rs2020955 |
Exac | rs2020955 |
Gnomad | rs2020955 |
Varsome | rs2020955 |
LitVar | rs2020955 |
Map | rs2020955 |
PheGenI | rs2020955 |
Biobank | rs2020955 |
1000 genomes | rs2020955 |
hgdp | rs2020955 |
ensembl | rs2020955 |
geneview | rs2020955 |
scholar | rs2020955 |
rs2020955 | |
pharmgkb | rs2020955 |
gwascentral | rs2020955 |
openSNP | rs2020955 |
23andMe | rs2020955 |
SNPshot | rs2020955 |
SNPdbe | rs2020955 |
MSV3d | rs2020955 |
GWAS Ctlg | rs2020955 |
GMAF | 0.04867 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 22768293] Association between XPF Polymorphisms and Cancer Risk: A Meta-Analysis
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
[PMID 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
[PMID 19270000] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
ClinVar | |
---|---|
Risk | rs2020955(C;C) |
Alt | rs2020955(C;C) |
Reference | Rs2020955(T;T) |
Significance | Probable-non-pathogenic |
Disease | not specified Xeroderma pigmentosum Cockayne syndrome Fanconi anemia Xeroderma pigmentosum |
Variation | info |
Gene | ERCC4 |
CLNDBN | not specified Xeroderma pigmentosum Cockayne syndrome Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F |
Reversed | 0 |
HGVS | NC_000016.9:g.14038659T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000120806.2, RCV000355415.1, RCV000466960.1, |