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rs730882121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(I;I) 0 common genotype
(TT;TT) 0 common in clinvar
Make rs730882121(-;-)
Make rs730882121(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position92645395
GeneKIF11
is asnp
is mentioned by
dbSNPrs730882121
dbSNP (classic)rs730882121
ClinGenrs730882121
ebirs730882121
HLIrs730882121
Exacrs730882121
Gnomadrs730882121
Varsomers730882121
LitVarrs730882121
Maprs730882121
PheGenIrs730882121
Biobankrs730882121
1000 genomesrs730882121
hgdprs730882121
ensemblrs730882121
geneviewrs730882121
scholarrs730882121
googlers730882121
pharmgkbrs730882121
gwascentralrs730882121
openSNPrs730882121
23andMers730882121
SNPshotrs730882121
SNPdbers730882121
MSV3drs730882121
GWAS Ctlgrs730882121
Max Magnitude0
ClinVar
Risk rs730882121(-;-)
Alt rs730882121(-;-)
Reference Rs730882121(TT;TT)
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.94405152_94405153delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000161138.4,