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

rs199422158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422158(-;-)
Make rs199422158(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197122237
GeneASPM
is asnp
is mentioned by
dbSNPrs199422158
ebirs199422158
HLIrs199422158
Exacrs199422158
Varsomers199422158
Maprs199422158
PheGenIrs199422158
hapmaprs199422158
1000 genomesrs199422158
hgdprs199422158
ensemblrs199422158
gopubmedrs199422158
geneviewrs199422158
scholarrs199422158
googlers199422158
pharmgkbrs199422158
gwascentralrs199422158
openSNPrs199422158
23andMers199422158
23andMe allrs199422158
SNP Nexus

SNPshotrs199422158
SNPdbers199422158
MSV3drs199422158
GWAS Ctlgrs199422158
Max Magnitude0
ClinVar
Risk rs199422158(;)
Alt rs199422158(;)
Reference rs199422158(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 1
HGVS NC_000001.10:g.197091367delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020769.1,