rs747319628
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs747319628(C;T) |
Make rs747319628(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 8 |
Position | 31132498 |
Gene | WRN |
is a | snp |
is | mentioned by |
dbSNP | rs747319628 |
dbSNP (classic) | rs747319628 |
ClinGen | rs747319628 |
ebi | rs747319628 |
HLI | rs747319628 |
Exac | rs747319628 |
Gnomad | rs747319628 |
Varsome | rs747319628 |
LitVar | rs747319628 |
Map | rs747319628 |
PheGenI | rs747319628 |
Biobank | rs747319628 |
1000 genomes | rs747319628 |
hgdp | rs747319628 |
ensembl | rs747319628 |
geneview | rs747319628 |
scholar | rs747319628 |
rs747319628 | |
pharmgkb | rs747319628 |
gwascentral | rs747319628 |
openSNP | rs747319628 |
23andMe | rs747319628 |
SNPshot | rs747319628 |
SNPdbe | rs747319628 |
MSV3d | rs747319628 |
GWAS Ctlg | rs747319628 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747319628(T;T) |
Alt | rs747319628(T;T) |
Reference | Rs747319628(C;C) |
Significance | Probable-Pathogenic |
Disease | Werner syndrome |
Variation | info |
Gene | WRN |
CLNDBN | Werner syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.30990014C>T |
CLNSRC | Illumina |
CLNACC | RCV000269754.1, |