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rs387907082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907082(A;A)
Make rs387907082(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position36081512
GeneWDR62
is asnp
is mentioned by
dbSNPrs387907082
dbSNP (classic)rs387907082
ClinGenrs387907082
ebirs387907082
HLIrs387907082
Exacrs387907082
Gnomadrs387907082
Varsomers387907082
LitVarrs387907082
Maprs387907082
PheGenIrs387907082
Biobankrs387907082
1000 genomesrs387907082
hgdprs387907082
ensemblrs387907082
geneviewrs387907082
scholarrs387907082
googlers387907082
pharmgkbrs387907082
gwascentralrs387907082
openSNPrs387907082
23andMers387907082
SNPshotrs387907082
SNPdbers387907082
MSV3drs387907082
GWAS Ctlgrs387907082
Max Magnitude0
ClinVar
Risk rs387907082(A;A)
Alt rs387907082(A;A)
Reference Rs387907082(G;G)
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.36572414G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024029.3,