rs121908563
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908563(C;T) |
Make rs121908563(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 43587375 |
Gene | POLH |
is a | snp |
is | mentioned by |
dbSNP | rs121908563 |
dbSNP (classic) | rs121908563 |
ClinGen | rs121908563 |
ebi | rs121908563 |
HLI | rs121908563 |
Exac | rs121908563 |
Gnomad | rs121908563 |
Varsome | rs121908563 |
LitVar | rs121908563 |
Map | rs121908563 |
PheGenI | rs121908563 |
Biobank | rs121908563 |
1000 genomes | rs121908563 |
hgdp | rs121908563 |
ensembl | rs121908563 |
geneview | rs121908563 |
scholar | rs121908563 |
rs121908563 | |
pharmgkb | rs121908563 |
gwascentral | rs121908563 |
openSNP | rs121908563 |
23andMe | rs121908563 |
SNPshot | rs121908563 |
SNPdbe | rs121908563 |
MSV3d | rs121908563 |
GWAS Ctlg | rs121908563 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908563(T;T) |
Alt | rs121908563(T;T) |
Reference | Rs121908563(C;C) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | POLH |
CLNDBN | Xeroderma pigmentosum, variant type |
Reversed | 0 |
HGVS | NC_000006.11:g.43555112C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006247.2, |