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rs387907083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907083(A;A)
Make rs387907083(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position36083222
GeneWDR62
is asnp
is mentioned by
dbSNPrs387907083
dbSNP (classic)rs387907083
ClinGenrs387907083
ebirs387907083
HLIrs387907083
Exacrs387907083
Gnomadrs387907083
Varsomers387907083
LitVarrs387907083
Maprs387907083
PheGenIrs387907083
Biobankrs387907083
1000 genomesrs387907083
hgdprs387907083
ensemblrs387907083
geneviewrs387907083
scholarrs387907083
googlers387907083
pharmgkbrs387907083
gwascentralrs387907083
openSNPrs387907083
23andMers387907083
SNPshotrs387907083
SNPdbers387907083
MSV3drs387907083
GWAS Ctlgrs387907083
Max Magnitude0
ClinVar
Risk rs387907083(A;A)
Alt rs387907083(A;A)
Reference Rs387907083(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.36574124G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024031.4,