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rs199422151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422151(C;T)
Make rs199422151(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197125190
GeneASPM
is asnp
is mentioned by
dbSNPrs199422151
ebirs199422151
HLIrs199422151
Exacrs199422151
Varsomers199422151
Maprs199422151
PheGenIrs199422151
hapmaprs199422151
1000 genomesrs199422151
hgdprs199422151
ensemblrs199422151
gopubmedrs199422151
geneviewrs199422151
scholarrs199422151
googlers199422151
pharmgkbrs199422151
gwascentralrs199422151
openSNPrs199422151
23andMers199422151
23andMe allrs199422151
SNP Nexus

SNPshotrs199422151
SNPdbers199422151
MSV3drs199422151
GWAS Ctlgrs199422151
Max Magnitude0
ClinVar
Risk rs199422151(A,T;A,T)
Alt rs199422151(A,T;A,T)
Reference rs199422151(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.197094320G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020759.1,