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rs199422201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422201(A;A)
Make rs199422201(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position197088358
GeneASPM
is asnp
is mentioned by
dbSNPrs199422201
ebirs199422201
HLIrs199422201
Exacrs199422201
Varsomers199422201
Maprs199422201
PheGenIrs199422201
hapmaprs199422201
1000 genomesrs199422201
hgdprs199422201
ensemblrs199422201
gopubmedrs199422201
geneviewrs199422201
scholarrs199422201
googlers199422201
pharmgkbrs199422201
gwascentralrs199422201
openSNPrs199422201
23andMers199422201
23andMe allrs199422201
SNP Nexus

SNPshotrs199422201
SNPdbers199422201
MSV3drs199422201
GWAS Ctlgrs199422201
Max Magnitude0
ClinVar
Risk rs199422201(A;A)
Alt rs199422201(A;A)
Reference rs199422201(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.197057488G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020739.1,