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

rs199422162

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422162(A;A)
Make rs199422162(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197105177
GeneASPM
is asnp
is mentioned by
dbSNPrs199422162
ebirs199422162
HLIrs199422162
Exacrs199422162
Varsomers199422162
Maprs199422162
PheGenIrs199422162
hapmaprs199422162
1000 genomesrs199422162
hgdprs199422162
ensemblrs199422162
gopubmedrs199422162
geneviewrs199422162
scholarrs199422162
googlers199422162
pharmgkbrs199422162
gwascentralrs199422162
openSNPrs199422162
23andMers199422162
23andMe allrs199422162
SNP Nexus

SNPshotrs199422162
SNPdbers199422162
MSV3drs199422162
GWAS Ctlgrs199422162
Max Magnitude0
ClinVar
Risk rs199422162(A;A)
Alt rs199422162(A;A)
Reference rs199422162(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.197074307C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020774.1,