rs869025184
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCTC;TCTC) | 0 | common in clinvar |
Make rs869025184(-;-) |
Make rs869025184(-;TCTC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 13947900 |
Gene | ERCC4 |
is a | snp |
is | mentioned by |
dbSNP | rs869025184 |
dbSNP (classic) | rs869025184 |
ClinGen | rs869025184 |
ebi | rs869025184 |
HLI | rs869025184 |
Exac | rs869025184 |
Gnomad | rs869025184 |
Varsome | rs869025184 |
LitVar | rs869025184 |
Map | rs869025184 |
PheGenI | rs869025184 |
Biobank | rs869025184 |
1000 genomes | rs869025184 |
hgdp | rs869025184 |
ensembl | rs869025184 |
geneview | rs869025184 |
scholar | rs869025184 |
rs869025184 | |
pharmgkb | rs869025184 |
gwascentral | rs869025184 |
openSNP | rs869025184 |
23andMe | rs869025184 |
SNPshot | rs869025184 |
SNPdbe | rs869025184 |
MSV3d | rs869025184 |
GWAS Ctlg | rs869025184 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025184(-;-) |
Alt | rs869025184(-;-) |
Reference | Rs869025184(TCTC;TCTC) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | ERCC4 |
CLNDBN | Xeroderma pigmentosum, group F |
Reversed | 0 |
HGVS | NC_000016.9:g.14041757_14041760delTCTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018047.27, |