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

rs199422181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422181(C;T)
Make rs199422181(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197100583
GeneASPM
is asnp
is mentioned by
dbSNPrs199422181
ebirs199422181
HLIrs199422181
Exacrs199422181
Varsomers199422181
Maprs199422181
PheGenIrs199422181
hapmaprs199422181
1000 genomesrs199422181
hgdprs199422181
ensemblrs199422181
gopubmedrs199422181
geneviewrs199422181
scholarrs199422181
googlers199422181
pharmgkbrs199422181
gwascentralrs199422181
openSNPrs199422181
23andMers199422181
23andMe allrs199422181
SNP Nexus

SNPshotrs199422181
SNPdbers199422181
MSV3drs199422181
GWAS Ctlgrs199422181
Max Magnitude0
ClinVar
Risk rs199422181(T;T)
Alt rs199422181(T;T)
Reference rs199422181(C;C)
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.197069713G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020808.1,