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rs1057516208

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516208(C;T)
Make rs1057516208(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position92645436
GeneKIF11
is asnp
is mentioned by
dbSNPrs1057516208
dbSNP (old)rs1057516208
ClinGenrs1057516208
ebirs1057516208
HLIrs1057516208
Exacrs1057516208
Gnomadrs1057516208
Varsomers1057516208
Maprs1057516208
PheGenIrs1057516208
Biobankrs1057516208
1000 genomesrs1057516208
hgdprs1057516208
ensemblrs1057516208
gopubmedrs1057516208
geneviewrs1057516208
scholarrs1057516208
googlers1057516208
pharmgkbrs1057516208
gwascentralrs1057516208
openSNPrs1057516208
23andMers1057516208
23andMe allrs1057516208
SNPshotrs1057516208
SNPdbers1057516208
MSV3drs1057516208
GWAS Ctlgrs1057516208
Max Magnitude0
ClinVar
Risk rs1057516208(T;T)
Alt rs1057516208(T;T)
Reference Rs1057516208(C;C)
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.94405193C>T
CLNSRC
CLNACC RCV000408821.1,