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rs199422150

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422150(G;T)
Make rs199422150(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197128485
GeneASPM
is asnp
is mentioned by
dbSNPrs199422150
ebirs199422150
HLIrs199422150
Exacrs199422150
Varsomers199422150
Maprs199422150
PheGenIrs199422150
hapmaprs199422150
1000 genomesrs199422150
hgdprs199422150
ensemblrs199422150
gopubmedrs199422150
geneviewrs199422150
scholarrs199422150
googlers199422150
pharmgkbrs199422150
gwascentralrs199422150
openSNPrs199422150
23andMers199422150
23andMe allrs199422150
SNP Nexus

SNPshotrs199422150
SNPdbers199422150
MSV3drs199422150
GWAS Ctlgrs199422150
Max Magnitude0
ClinVar
Risk rs199422150(A;A) rs199422150(T;T)
Alt rs199422150(A;A) rs199422150(T;T)
Reference Rs199422150(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.197097615C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020758.1,