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rs587784542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784542(C;T)
Make rs587784542(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position36081511
GeneWDR62
is asnp
is mentioned by
dbSNPrs587784542
dbSNP (classic)rs587784542
ClinGenrs587784542
ebirs587784542
HLIrs587784542
Exacrs587784542
Gnomadrs587784542
Varsomers587784542
LitVarrs587784542
Maprs587784542
PheGenIrs587784542
Biobankrs587784542
1000 genomesrs587784542
hgdprs587784542
ensemblrs587784542
geneviewrs587784542
scholarrs587784542
googlers587784542
pharmgkbrs587784542
gwascentralrs587784542
openSNPrs587784542
23andMers587784542
SNPshotrs587784542
SNPdbers587784542
MSV3drs587784542
GWAS Ctlgrs587784542
Max Magnitude0
ClinVar
Risk rs587784542(T;T)
Alt rs587784542(T;T)
Reference Rs587784542(C;C)
Significance Probable-Pathogenic
Disease Primary autosomal recessive microcephaly 2
Variation info
Gene WDR62
CLNDBN Primary autosomal recessive microcephaly 2
Reversed 0
HGVS NC_000019.9:g.36572413C>T
CLNSRC
CLNACC RCV000147912.1,