rs371739894
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs371739894(A;A) |
Make rs371739894(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 49505883 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs371739894 |
dbSNP (classic) | rs371739894 |
ClinGen | rs371739894 |
ebi | rs371739894 |
HLI | rs371739894 |
Exac | rs371739894 |
Gnomad | rs371739894 |
Varsome | rs371739894 |
LitVar | rs371739894 |
Map | rs371739894 |
PheGenI | rs371739894 |
Biobank | rs371739894 |
1000 genomes | rs371739894 |
hgdp | rs371739894 |
ensembl | rs371739894 |
geneview | rs371739894 |
scholar | rs371739894 |
rs371739894 | |
pharmgkb | rs371739894 |
gwascentral | rs371739894 |
openSNP | rs371739894 |
23andMe | rs371739894 |
SNPshot | rs371739894 |
SNPdbe | rs371739894 |
MSV3d | rs371739894 |
GWAS Ctlg | rs371739894 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371739894(A;A) |
Alt | rs371739894(A;A) |
Reference | Rs371739894(C;C) |
Significance | Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 |
CLNDBN | Cockayne syndrome B |
Reversed | 0 |
HGVS | NC_000010.10:g.50713929C>A |
CLNSRC | |
CLNACC | RCV000170365.2, |