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

rs199422164

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422164(-;-)
Make rs199422164(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197104670
GeneASPM
is asnp
is mentioned by
dbSNPrs199422164
ebirs199422164
HLIrs199422164
Exacrs199422164
Varsomers199422164
Maprs199422164
PheGenIrs199422164
hapmaprs199422164
1000 genomesrs199422164
hgdprs199422164
ensemblrs199422164
gopubmedrs199422164
geneviewrs199422164
scholarrs199422164
googlers199422164
pharmgkbrs199422164
gwascentralrs199422164
openSNPrs199422164
23andMers199422164
23andMe allrs199422164
SNP Nexus

SNPshotrs199422164
SNPdbers199422164
MSV3drs199422164
GWAS Ctlgrs199422164
Max Magnitude0
ClinVar
Risk rs199422164(;)
Alt rs199422164(;)
Reference rs199422164(A;A)
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.197073800delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020777.1,