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

rs199422134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422134(A;A)
Make rs199422134(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position197143675
GeneASPM
is asnp
is mentioned by
dbSNPrs199422134
ebirs199422134
HLIrs199422134
Exacrs199422134
Varsomers199422134
Maprs199422134
PheGenIrs199422134
hapmaprs199422134
1000 genomesrs199422134
hgdprs199422134
ensemblrs199422134
gopubmedrs199422134
geneviewrs199422134
scholarrs199422134
googlers199422134
pharmgkbrs199422134
gwascentralrs199422134
openSNPrs199422134
23andMers199422134
23andMe allrs199422134
SNP Nexus

SNPshotrs199422134
SNPdbers199422134
MSV3drs199422134
GWAS Ctlgrs199422134
Max Magnitude0
ClinVar
Risk rs199422134(A,T;A,T)
Alt rs199422134(A,T;A,T)
Reference rs199422134(C;C)
Significance Other
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 1
HGVS NC_000001.10:g.197112805G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020782.2,