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rs199422195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422195(C;T)
Make rs199422195(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090295
GeneASPM
is asnp
is mentioned by
dbSNPrs199422195
ebirs199422195
HLIrs199422195
Exacrs199422195
Varsomers199422195
Maprs199422195
PheGenIrs199422195
hapmaprs199422195
1000 genomesrs199422195
hgdprs199422195
ensemblrs199422195
gopubmedrs199422195
geneviewrs199422195
scholarrs199422195
googlers199422195
pharmgkbrs199422195
gwascentralrs199422195
openSNPrs199422195
23andMers199422195
23andMe allrs199422195
SNP Nexus

SNPshotrs199422195
SNPdbers199422195
MSV3drs199422195
GWAS Ctlgrs199422195
Max Magnitude0
ClinVar
Risk rs199422195(T;T)
Alt rs199422195(T;T)
Reference rs199422195(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.197059425G>A
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020825.2,