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rs199422194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422194(C;T)
Make rs199422194(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090328
GeneASPM
is asnp
is mentioned by
dbSNPrs199422194
ebirs199422194
HLIrs199422194
Exacrs199422194
Varsomers199422194
Maprs199422194
PheGenIrs199422194
hapmaprs199422194
1000 genomesrs199422194
hgdprs199422194
ensemblrs199422194
gopubmedrs199422194
geneviewrs199422194
scholarrs199422194
googlers199422194
pharmgkbrs199422194
gwascentralrs199422194
openSNPrs199422194
23andMers199422194
23andMe allrs199422194
SNP Nexus

SNPshotrs199422194
SNPdbers199422194
MSV3drs199422194
GWAS Ctlgrs199422194
Max Magnitude0
ClinVar
Risk rs199422194(T;T)
Alt rs199422194(T;T)
Reference rs199422194(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 1
HGVS NC_000001.10:g.197059458G>A
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020824.2, RCV000216613.1,