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rs7177192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs7177192(C;C)
Make rs7177192(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40606445
GeneCASC5, KNL1
is asnp
is mentioned by
dbSNPrs7177192
dbSNP (classic)rs7177192
ClinGenrs7177192
ebirs7177192
HLIrs7177192
Exacrs7177192
Gnomadrs7177192
Varsomers7177192
LitVarrs7177192
Maprs7177192
PheGenIrs7177192
Biobankrs7177192
1000 genomesrs7177192
hgdprs7177192
ensemblrs7177192
geneviewrs7177192
scholarrs7177192
googlers7177192
pharmgkbrs7177192
gwascentralrs7177192
openSNPrs7177192
23andMers7177192
SNPshotrs7177192
SNPdbers7177192
MSV3drs7177192
GWAS Ctlgrs7177192
GMAF0.3416
Max Magnitude0
? (C;C) (C;G) (G;G) 28




ClinVar
Risk rs7177192(C;C)
Alt rs7177192(C;C)
Reference Rs7177192(G;G)
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.40898643G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000116558.1, RCV000371367.1,