rs587777349
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777349(C;C) |
Make rs587777349(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 39218103 |
Gene | WDR19 |
is a | snp |
is | mentioned by |
dbSNP | rs587777349 |
dbSNP (classic) | rs587777349 |
ClinGen | rs587777349 |
ebi | rs587777349 |
HLI | rs587777349 |
Exac | rs587777349 |
Gnomad | rs587777349 |
Varsome | rs587777349 |
LitVar | rs587777349 |
Map | rs587777349 |
PheGenI | rs587777349 |
Biobank | rs587777349 |
1000 genomes | rs587777349 |
hgdp | rs587777349 |
ensembl | rs587777349 |
geneview | rs587777349 |
scholar | rs587777349 |
rs587777349 | |
pharmgkb | rs587777349 |
gwascentral | rs587777349 |
openSNP | rs587777349 |
23andMe | rs587777349 |
SNPshot | rs587777349 |
SNPdbe | rs587777349 |
MSV3d | rs587777349 |
GWAS Ctlg | rs587777349 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777349(C;C) |
Alt | rs587777349(C;C) |
Reference | Rs587777349(G;G) |
Significance | Pathogenic |
Disease | Senior-Loken syndrome 8 |
Variation | info |
Gene | WDR19 |
CLNDBN | Senior-Loken syndrome 8 |
Reversed | 0 |
HGVS | NC_000004.11:g.39219723G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000115011.3, |