rs758439420
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs758439420(A;A) |
Make rs758439420(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 45352351 |
Gene | ERCC2 |
is a | snp |
is | mentioned by |
dbSNP | rs758439420 |
dbSNP (classic) | rs758439420 |
ClinGen | rs758439420 |
ebi | rs758439420 |
HLI | rs758439420 |
Exac | rs758439420 |
Gnomad | rs758439420 |
Varsome | rs758439420 |
LitVar | rs758439420 |
Map | rs758439420 |
PheGenI | rs758439420 |
Biobank | rs758439420 |
1000 genomes | rs758439420 |
hgdp | rs758439420 |
ensembl | rs758439420 |
geneview | rs758439420 |
scholar | rs758439420 |
rs758439420 | |
pharmgkb | rs758439420 |
gwascentral | rs758439420 |
openSNP | rs758439420 |
23andMe | rs758439420 |
SNPshot | rs758439420 |
SNPdbe | rs758439420 |
MSV3d | rs758439420 |
GWAS Ctlg | rs758439420 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758439420(A;A) rs758439420(T;T) |
Alt | rs758439420(A;A) rs758439420(T;T) |
Reference | Rs758439420(C;C) |
Significance | Pathogenic |
Disease | Xeroderma pigmentosum |
Variation | info |
Gene | ERCC2 |
CLNDBN | Xeroderma pigmentosum, group D |
Reversed | 0 |
HGVS | NC_000019.9:g.45855609C>T |
CLNSRC | |
CLNACC | RCV000248679.1, |