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rs199422157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422157(C;G)
Make rs199422157(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197122459
GeneASPM
is asnp
is mentioned by
dbSNPrs199422157
ebirs199422157
HLIrs199422157
Exacrs199422157
Varsomers199422157
Maprs199422157
PheGenIrs199422157
hapmaprs199422157
1000 genomesrs199422157
hgdprs199422157
ensemblrs199422157
gopubmedrs199422157
geneviewrs199422157
scholarrs199422157
googlers199422157
pharmgkbrs199422157
gwascentralrs199422157
openSNPrs199422157
23andMers199422157
23andMe allrs199422157
SNP Nexus

SNPshotrs199422157
SNPdbers199422157
MSV3drs199422157
GWAS Ctlgrs199422157
Max Magnitude0
ClinVar
Risk rs199422157(G;G)
Alt rs199422157(G;G)
Reference rs199422157(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.197091589G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020767.1,