rs762309206
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTCA;CTCA) | 0 | common in clinvar |
Make rs762309206(-;-) |
Make rs762309206(-;CTCA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 45364833 |
Gene | ERCC2 |
is a | snp |
is | mentioned by |
dbSNP | rs762309206 |
dbSNP (classic) | rs762309206 |
ClinGen | rs762309206 |
ebi | rs762309206 |
HLI | rs762309206 |
Exac | rs762309206 |
Gnomad | rs762309206 |
Varsome | rs762309206 |
LitVar | rs762309206 |
Map | rs762309206 |
PheGenI | rs762309206 |
Biobank | rs762309206 |
1000 genomes | rs762309206 |
hgdp | rs762309206 |
ensembl | rs762309206 |
geneview | rs762309206 |
scholar | rs762309206 |
rs762309206 | |
pharmgkb | rs762309206 |
gwascentral | rs762309206 |
openSNP | rs762309206 |
23andMe | rs762309206 |
SNPshot | rs762309206 |
SNPdbe | rs762309206 |
MSV3d | rs762309206 |
GWAS Ctlg | rs762309206 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762309206(-;-) |
Alt | rs762309206(-;-) |
Reference | Rs762309206(CTCA;CTCA) |
Significance | Probable-Pathogenic |
Disease | Xeroderma pigmentosum Trichothiodystrophy 1 |
Variation | info |
Gene | ERCC2 |
CLNDBN | Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive |
Reversed | 0 |
HGVS | NC_000019.9:g.45868091_45868094delCTCA |
CLNSRC | |
CLNACC | RCV000454224.1, RCV000454337.1, |