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rs397704725

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCCAAGAGCCTGCCCTG;GCCAAGAGCCTGCCCTG) 0 common in clinvar
(GGCCAAGAGCCTGCCCT;GGCCAAGAGCCTGCCCT) 0 common in clinvar
(I;I) 0 common genotype
Make rs397704725(-;-)
Make rs397704725(-;GCCAAGAGCCTGCCCTG)
ReferenceGRCh38 38.1/141
Chromosome19
Position36103667
GeneWDR62
is asnp
is mentioned by
dbSNPrs397704725
dbSNP (classic)rs397704725
ClinGenrs397704725
ebirs397704725
HLIrs397704725
Exacrs397704725
Gnomadrs397704725
Varsomers397704725
LitVarrs397704725
Maprs397704725
PheGenIrs397704725
Biobankrs397704725
1000 genomesrs397704725
hgdprs397704725
ensemblrs397704725
geneviewrs397704725
scholarrs397704725
googlers397704725
pharmgkbrs397704725
gwascentralrs397704725
openSNPrs397704725
23andMers397704725
SNPshotrs397704725
SNPdbers397704725
MSV3drs397704725
GWAS Ctlgrs397704725
Max Magnitude0
ClinVar
Risk rs397704725(-;-)
Alt rs397704725(-;-)
Reference Rs397704725(GGCCAAGAGCCTGCCCT;GGCCAAGAGCCTGCCCT)
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.36594569_36594585del17
CLNSRC OMIM Allelic Variant
CLNACC RCV000000061.4,