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rs199422197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422197(-;-)
Make rs199422197(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090271
GeneASPM
is asnp
is mentioned by
dbSNPrs199422197
ebirs199422197
HLIrs199422197
Exacrs199422197
Varsomers199422197
Maprs199422197
PheGenIrs199422197
hapmaprs199422197
1000 genomesrs199422197
hgdprs199422197
ensemblrs199422197
gopubmedrs199422197
geneviewrs199422197
scholarrs199422197
googlers199422197
pharmgkbrs199422197
gwascentralrs199422197
openSNPrs199422197
23andMers199422197
23andMe allrs199422197
SNP Nexus

SNPshotrs199422197
SNPdbers199422197
MSV3drs199422197
GWAS Ctlgrs199422197
Max Magnitude0
ClinVar
Risk rs199422197(;)
Alt rs199422197(;)
Reference rs199422197(A;A)
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.197059401delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020827.1,