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rs587777349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777349(C;C)
Make rs587777349(C;G)
ReferenceGRCh38 38.1/142
Chromosome4
Position39218103
GeneWDR19
is asnp
is mentioned by
dbSNPrs587777349
dbSNP (classic)rs587777349
ClinGenrs587777349
ebirs587777349
HLIrs587777349
Exacrs587777349
Gnomadrs587777349
Varsomers587777349
LitVarrs587777349
Maprs587777349
PheGenIrs587777349
Biobankrs587777349
1000 genomesrs587777349
hgdprs587777349
ensemblrs587777349
geneviewrs587777349
scholarrs587777349
googlers587777349
pharmgkbrs587777349
gwascentralrs587777349
openSNPrs587777349
23andMers587777349
SNPshotrs587777349
SNPdbers587777349
MSV3drs587777349
GWAS Ctlgrs587777349
Max Magnitude0
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,