Have questions? Visit https://www.reddit.com/r/SNPedia

rs8040502

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs8040502(A;G)
Make rs8040502(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40622992
GeneCASC5, KNL1
is asnp
is mentioned by
dbSNPrs8040502
dbSNP (old)rs8040502
ClinGenrs8040502
ebirs8040502
HLIrs8040502
Exacrs8040502
Gnomadrs8040502
Varsomers8040502
Maprs8040502
PheGenIrs8040502
Biobankrs8040502
1000 genomesrs8040502
hgdprs8040502
ensemblrs8040502
gopubmedrs8040502
geneviewrs8040502
scholarrs8040502
googlers8040502
pharmgkbrs8040502
gwascentralrs8040502
openSNPrs8040502
23andMers8040502
23andMe allrs8040502
SNPshotrs8040502
SNPdbers8040502
MSV3drs8040502
GWAS Ctlgrs8040502
GMAF0.2994
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs8040502(G;G)
Alt rs8040502(G;G)
Reference Rs8040502(A;A)
Significance Non-pathogenic
Disease Primary Microcephaly
Variation info
Gene KNL1
CLNDBN Primary Microcephaly, Recessive
Reversed 0
HGVS NC_000015.9:g.40915190A>G
CLNSRC
CLNACC RCV000320581.1,