rs267607280
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607280(C;C) |
Make rs267607280(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 102873283 |
Gene | BIVM-ERCC5, ERCC5 |
is a | snp |
is | mentioned by |
dbSNP | rs267607280 |
dbSNP (classic) | rs267607280 |
ClinGen | rs267607280 |
ebi | rs267607280 |
HLI | rs267607280 |
Exac | rs267607280 |
Gnomad | rs267607280 |
Varsome | rs267607280 |
LitVar | rs267607280 |
Map | rs267607280 |
PheGenI | rs267607280 |
Biobank | rs267607280 |
1000 genomes | rs267607280 |
hgdp | rs267607280 |
ensembl | rs267607280 |
geneview | rs267607280 |
scholar | rs267607280 |
rs267607280 | |
pharmgkb | rs267607280 |
gwascentral | rs267607280 |
openSNP | rs267607280 |
23andMe | rs267607280 |
SNPshot | rs267607280 |
SNPdbe | rs267607280 |
MSV3d | rs267607280 |
GWAS Ctlg | rs267607280 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607280(C;C) |
Alt | rs267607280(C;C) |
Reference | Rs267607280(G;G) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | BIVM-ERCC5 ERCC5 |
CLNDBN | Xeroderma pigmentosum, group G |
Reversed | 0 |
HGVS | NC_000013.10:g.103525633G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034377.30, |