rs121434570
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434570(G;T) |
Make rs121434570(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 102872397 |
Gene | BIVM-ERCC5, ERCC5 |
is a | snp |
is | mentioned by |
dbSNP | rs121434570 |
dbSNP (classic) | rs121434570 |
ClinGen | rs121434570 |
ebi | rs121434570 |
HLI | rs121434570 |
Exac | rs121434570 |
Gnomad | rs121434570 |
Varsome | rs121434570 |
LitVar | rs121434570 |
Map | rs121434570 |
PheGenI | rs121434570 |
Biobank | rs121434570 |
1000 genomes | rs121434570 |
hgdp | rs121434570 |
ensembl | rs121434570 |
geneview | rs121434570 |
scholar | rs121434570 |
rs121434570 | |
pharmgkb | rs121434570 |
gwascentral | rs121434570 |
openSNP | rs121434570 |
23andMe | rs121434570 |
SNPshot | rs121434570 |
SNPdbe | rs121434570 |
MSV3d | rs121434570 |
GWAS Ctlg | rs121434570 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434570(A;A) rs121434570(T;T) |
Alt | rs121434570(A;A) rs121434570(T;T) |
Reference | Rs121434570(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.103524747G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018034.25, |