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rs11858113

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11858113(C;C)
Make rs11858113(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40621979
GeneCASC5, KNL1
is asnp
is mentioned by
dbSNPrs11858113
dbSNP (old)rs11858113
ClinGenrs11858113
ebirs11858113
HLIrs11858113
Exacrs11858113
Gnomadrs11858113
Varsomers11858113
Maprs11858113
PheGenIrs11858113
Biobankrs11858113
1000 genomesrs11858113
hgdprs11858113
ensemblrs11858113
gopubmedrs11858113
geneviewrs11858113
scholarrs11858113
googlers11858113
pharmgkbrs11858113
gwascentralrs11858113
openSNPrs11858113
23andMers11858113
23andMe allrs11858113
SNPshotrs11858113
SNPdbers11858113
MSV3drs11858113
GWAS Ctlgrs11858113
GMAF0.348
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk rs11858113(C;C)
Alt rs11858113(C;C)
Reference Rs11858113(T;T)
Significance Non-pathogenic
Disease not specified Primary Microcephaly
Variation info
Gene KNL1
CLNDBN not specified Primary Microcephaly, Recessive
Reversed 0
HGVS NC_000015.9:g.40914177T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000116561.1, RCV000300029.1,