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rs199422159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422159(C;G)
Make rs199422159(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197122190
GeneASPM
is asnp
is mentioned by
dbSNPrs199422159
ebirs199422159
HLIrs199422159
Exacrs199422159
Varsomers199422159
Maprs199422159
PheGenIrs199422159
hapmaprs199422159
1000 genomesrs199422159
hgdprs199422159
ensemblrs199422159
gopubmedrs199422159
geneviewrs199422159
scholarrs199422159
googlers199422159
pharmgkbrs199422159
gwascentralrs199422159
openSNPrs199422159
23andMers199422159
23andMe allrs199422159
SNP Nexus

SNPshotrs199422159
SNPdbers199422159
MSV3drs199422159
GWAS Ctlgrs199422159
Max Magnitude0
ClinVar
Risk rs199422159(G;G)
Alt rs199422159(G;G)
Reference rs199422159(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.197091320G>C
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020770.2,