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rs797045430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045430(-;-)
Make rs797045430(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position40620958
GeneCASC5, KNL1
is asnp
is mentioned by
dbSNPrs797045430
dbSNP (old)rs797045430
ClinGenrs797045430
ebirs797045430
HLIrs797045430
Exacrs797045430
Gnomadrs797045430
Varsomers797045430
Maprs797045430
PheGenIrs797045430
Biobankrs797045430
1000 genomesrs797045430
hgdprs797045430
ensemblrs797045430
gopubmedrs797045430
geneviewrs797045430
scholarrs797045430
googlers797045430
pharmgkbrs797045430
gwascentralrs797045430
openSNPrs797045430
23andMers797045430
23andMe allrs797045430
SNP Nexus

SNPshotrs797045430
SNPdbers797045430
MSV3drs797045430
GWAS Ctlgrs797045430
Max Magnitude0
ClinVar
Risk rs797045430(-;-)
Alt rs797045430(-;-)
Reference Rs797045430(G;G)
Significance Probable-Pathogenic
Disease Primary autosomal recessive microcephaly 4
Variation info
Gene KNL1
CLNDBN Primary autosomal recessive microcephaly 4
Reversed 0
HGVS NC_000015.9:g.40913156delG
CLNSRC
CLNACC RCV000193385.1,