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rs863225127

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225127(-;T)
Make rs863225127(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position40625448
GeneCASC5
is asnp
is mentioned by
dbSNPrs863225127
ClinGenrs863225127
ebirs863225127
HLIrs863225127
Exacrs863225127
Varsomers863225127
Maprs863225127
PheGenIrs863225127
hapmaprs863225127
1000 genomesrs863225127
hgdprs863225127
ensemblrs863225127
gopubmedrs863225127
geneviewrs863225127
scholarrs863225127
googlers863225127
pharmgkbrs863225127
gwascentralrs863225127
openSNPrs863225127
23andMers863225127
23andMe allrs863225127
SNP Nexus

SNPshotrs863225127
SNPdbers863225127
MSV3drs863225127
GWAS Ctlgrs863225127
Max Magnitude0
ClinVar
Risk rs863225127(T;T)
Alt rs863225127(T;T)
Reference Rs863225127(;)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 4
Variation info
Gene KNL1
CLNDBN Primary autosomal recessive microcephaly 4
Reversed 0
HGVS NC_000015.9:g.40917646dupT
CLNSRC University Of Arkansas for Medical Sciences
CLNACC RCV000201695.1,