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rs730882122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882122(A;A)
Make rs730882122(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position92613376
GeneKIF11
is asnp
is mentioned by
dbSNPrs730882122
dbSNP (classic)rs730882122
ClinGenrs730882122
ebirs730882122
HLIrs730882122
Exacrs730882122
Gnomadrs730882122
Varsomers730882122
LitVarrs730882122
Maprs730882122
PheGenIrs730882122
Biobankrs730882122
1000 genomesrs730882122
hgdprs730882122
ensemblrs730882122
geneviewrs730882122
scholarrs730882122
googlers730882122
pharmgkbrs730882122
gwascentralrs730882122
openSNPrs730882122
23andMers730882122
SNPshotrs730882122
SNPdbers730882122
MSV3drs730882122
GWAS Ctlgrs730882122
Max Magnitude0
ClinVar
Risk rs730882122(A;A) rs730882122(T;T)
Alt rs730882122(A;A) rs730882122(T;T)
Reference Rs730882122(G;G)
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.94373133G>A; NC_000010.10:g.94373133G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000161139.4, RCV000172877.2,