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rs730882063

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882063(C;C)
Make rs730882063(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position92645644
GeneKIF11
is asnp
is mentioned by
dbSNPrs730882063
ebirs730882063
HLIrs730882063
Exacrs730882063
Varsomers730882063
Maprs730882063
PheGenIrs730882063
hapmaprs730882063
1000 genomesrs730882063
hgdprs730882063
ensemblrs730882063
gopubmedrs730882063
geneviewrs730882063
scholarrs730882063
googlers730882063
pharmgkbrs730882063
gwascentralrs730882063
openSNPrs730882063
23andMers730882063
23andMe allrs730882063
SNP Nexus

SNPshotrs730882063
SNPdbers730882063
MSV3drs730882063
GWAS Ctlgrs730882063
Max Magnitude0
ClinVar
Risk rs730882063(C;C)
Alt rs730882063(C;C)
Reference rs730882063(T;T)
Significance Pathogenic
Disease Microcephaly with or without chorioretinopathy
Variation info
Gene KIF11
CLNDBN Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Reversed 0
HGVS NC_000010.10:g.94405401T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022638.23,