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rs397704721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGCC;TGCC) 0 common in clinvar
Make rs397704721(-;-)
Make rs397704721(-;TGCC)
ReferenceGRCh38 38.1/141
Chromosome19
Position36104569
GeneWDR62
is asnp
is mentioned by
dbSNPrs397704721
ebirs397704721
HLIrs397704721
Exacrs397704721
Varsomers397704721
Maprs397704721
PheGenIrs397704721
hapmaprs397704721
1000 genomesrs397704721
hgdprs397704721
ensemblrs397704721
gopubmedrs397704721
geneviewrs397704721
scholarrs397704721
googlers397704721
pharmgkbrs397704721
gwascentralrs397704721
openSNPrs397704721
23andMers397704721
23andMe allrs397704721
SNP Nexus

SNPshotrs397704721
SNPdbers397704721
MSV3drs397704721
GWAS Ctlgrs397704721
Max Magnitude0
ClinVar
Risk rs397704721(;)
Alt rs397704721(;)
Reference rs397704721(TGCC;TGCC)
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.36595471_36595474delTGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000057.4,