rs281875221
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281875221(G;T) |
Make rs281875221(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 60887479 |
Gene | ERCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs281875221 |
dbSNP (classic) | rs281875221 |
ClinGen | rs281875221 |
ebi | rs281875221 |
HLI | rs281875221 |
Exac | rs281875221 |
Gnomad | rs281875221 |
Varsome | rs281875221 |
LitVar | rs281875221 |
Map | rs281875221 |
PheGenI | rs281875221 |
Biobank | rs281875221 |
1000 genomes | rs281875221 |
hgdp | rs281875221 |
ensembl | rs281875221 |
geneview | rs281875221 |
scholar | rs281875221 |
rs281875221 | |
pharmgkb | rs281875221 |
gwascentral | rs281875221 |
openSNP | rs281875221 |
23andMe | rs281875221 |
SNPshot | rs281875221 |
SNPdbe | rs281875221 |
MSV3d | rs281875221 |
GWAS Ctlg | rs281875221 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281875221(T;T) |
Alt | rs281875221(T;T) |
Reference | Rs281875221(G;G) |
Significance | Pathogenic |
Disease | UV-sensitive syndrome 2 not provided |
Variation | info |
Gene | ERCC8 |
CLNDBN | UV-sensitive syndrome 2 not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.60183306C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000024268.2, RCV000059645.1, |