rs9514067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(G;G) | 0 | common in clinvar |
Make rs9514067(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 102875580 |
Gene | BIVM-ERCC5, ERCC5 |
is a | snp |
is | mentioned by |
dbSNP | rs9514067 |
dbSNP (classic) | rs9514067 |
ClinGen | rs9514067 |
ebi | rs9514067 |
HLI | rs9514067 |
Exac | rs9514067 |
Gnomad | rs9514067 |
Varsome | rs9514067 |
LitVar | rs9514067 |
Map | rs9514067 |
PheGenI | rs9514067 |
Biobank | rs9514067 |
1000 genomes | rs9514067 |
hgdp | rs9514067 |
ensembl | rs9514067 |
geneview | rs9514067 |
scholar | rs9514067 |
rs9514067 | |
pharmgkb | rs9514067 |
gwascentral | rs9514067 |
openSNP | rs9514067 |
23andMe | rs9514067 |
SNPshot | rs9514067 |
SNPdbe | rs9514067 |
MSV3d | rs9514067 |
GWAS Ctlg | rs9514067 |
GMAF | 0.0005 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs9514067(C;C) rs9514067(T;T) |
Alt | Rs9514067(C;C) rs9514067(T;T) |
Reference | Rs9514067(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Xeroderma pigmentosum |
Variation | info |
Gene | BIVM-ERCC5 ERCC5 |
CLNDBN | not specified Xeroderma pigmentosum, group G |
Reversed | 0 |
HGVS | NC_000013.10:g.103527930G>C; NC_000013.10:g.103527930G>T |
CLNSRC | |
CLNACC | RCV000120846.1, RCV000190581.1, |