rs752088918
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs752088918(-;-) |
Make rs752088918(-;AT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 14167223 |
Gene | XPC |
is a | snp |
is | mentioned by |
dbSNP | rs752088918 |
dbSNP (classic) | rs752088918 |
ClinGen | rs752088918 |
ebi | rs752088918 |
HLI | rs752088918 |
Exac | rs752088918 |
Gnomad | rs752088918 |
Varsome | rs752088918 |
LitVar | rs752088918 |
Map | rs752088918 |
PheGenI | rs752088918 |
Biobank | rs752088918 |
1000 genomes | rs752088918 |
hgdp | rs752088918 |
ensembl | rs752088918 |
geneview | rs752088918 |
scholar | rs752088918 |
rs752088918 | |
pharmgkb | rs752088918 |
gwascentral | rs752088918 |
openSNP | rs752088918 |
23andMe | rs752088918 |
SNPshot | rs752088918 |
SNPdbe | rs752088918 |
MSV3d | rs752088918 |
GWAS Ctlg | rs752088918 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752088918(-;-) |
Alt | rs752088918(-;-) |
Reference | Rs752088918(AT;AT) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | XPC |
CLNDBN | Xeroderma pigmentosum, group C |
Reversed | 0 |
HGVS | NC_000003.11:g.14208723_14208724delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000282.2, |