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

rs199422161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422161(G;T)
Make rs199422161(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197121989
GeneASPM
is asnp
is mentioned by
dbSNPrs199422161
ebirs199422161
HLIrs199422161
Exacrs199422161
Varsomers199422161
Maprs199422161
PheGenIrs199422161
hapmaprs199422161
1000 genomesrs199422161
hgdprs199422161
ensemblrs199422161
gopubmedrs199422161
geneviewrs199422161
scholarrs199422161
googlers199422161
pharmgkbrs199422161
gwascentralrs199422161
openSNPrs199422161
23andMers199422161
23andMe allrs199422161
SNP Nexus

SNPshotrs199422161
SNPdbers199422161
MSV3drs199422161
GWAS Ctlgrs199422161
Max Magnitude0
ClinVar
Risk rs199422161(A,T;A,T)
Alt rs199422161(A,T;A,T)
Reference rs199422161(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 1
HGVS NC_000001.10:g.197091119C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020772.1, RCV000216421.1,