rs527236039
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs527236039(-;-) |
Make rs527236039(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 49530716 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs527236039 |
dbSNP (classic) | rs527236039 |
ClinGen | rs527236039 |
ebi | rs527236039 |
HLI | rs527236039 |
Exac | rs527236039 |
Gnomad | rs527236039 |
Varsome | rs527236039 |
LitVar | rs527236039 |
Map | rs527236039 |
PheGenI | rs527236039 |
Biobank | rs527236039 |
1000 genomes | rs527236039 |
hgdp | rs527236039 |
ensembl | rs527236039 |
geneview | rs527236039 |
scholar | rs527236039 |
rs527236039 | |
pharmgkb | rs527236039 |
gwascentral | rs527236039 |
openSNP | rs527236039 |
23andMe | rs527236039 |
SNPshot | rs527236039 |
SNPdbe | rs527236039 |
MSV3d | rs527236039 |
GWAS Ctlg | rs527236039 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236039(-;-) |
Alt | rs527236039(-;-) |
Reference | Rs527236039(A;A) |
Significance | Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 |
CLNDBN | Cockayne syndrome B |
Reversed | 1 |
HGVS | NC_000010.10:g.50738762delT |
CLNSRC | ClinVar |
CLNACC | RCV000132720.1, |