rs754532049
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs754532049(-;-) |
Make rs754532049(-;CA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 14158239 |
Gene | XPC |
is a | snp |
is | mentioned by |
dbSNP | rs754532049 |
dbSNP (classic) | rs754532049 |
ClinGen | rs754532049 |
ebi | rs754532049 |
HLI | rs754532049 |
Exac | rs754532049 |
Gnomad | rs754532049 |
Varsome | rs754532049 |
LitVar | rs754532049 |
Map | rs754532049 |
PheGenI | rs754532049 |
Biobank | rs754532049 |
1000 genomes | rs754532049 |
hgdp | rs754532049 |
ensembl | rs754532049 |
geneview | rs754532049 |
scholar | rs754532049 |
rs754532049 | |
pharmgkb | rs754532049 |
gwascentral | rs754532049 |
openSNP | rs754532049 |
23andMe | rs754532049 |
SNPshot | rs754532049 |
SNPdbe | rs754532049 |
MSV3d | rs754532049 |
GWAS Ctlg | rs754532049 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754532049(-;-) |
Alt | rs754532049(-;-) |
Reference | Rs754532049(CA;CA) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | XPC |
CLNDBN | Xeroderma pigmentosum, group C |
Reversed | 0 |
HGVS | NC_000003.11:g.14199739_14199740delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000286.4, |