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rs587784546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587784546(-;AAAGCAT)
Make rs587784546(AAAGCAT;AAAGCAT)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position36091255
GeneWDR62
is asnp
is mentioned by
dbSNPrs587784546
dbSNP (classic)rs587784546
ClinGenrs587784546
ebirs587784546
HLIrs587784546
Exacrs587784546
Gnomadrs587784546
Varsomers587784546
LitVarrs587784546
Maprs587784546
PheGenIrs587784546
Biobankrs587784546
1000 genomesrs587784546
hgdprs587784546
ensemblrs587784546
geneviewrs587784546
scholarrs587784546
googlers587784546
pharmgkbrs587784546
gwascentralrs587784546
openSNPrs587784546
23andMers587784546
SNPshotrs587784546
SNPdbers587784546
MSV3drs587784546
GWAS Ctlgrs587784546
Max Magnitude0
ClinVar
Risk rs587784546(AAAGCAT;AAAGCAT)
Alt rs587784546(AAAGCAT;AAAGCAT)
Reference Rs587784546(-;-)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 2
Variation info
Gene WDR62
CLNDBN Primary autosomal recessive microcephaly 2
Reversed 0
HGVS NC_000019.9:g.36582151_36582157dupAAAGCAT
CLNSRC
CLNACC RCV000147928.1,