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rs199422165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422165(C;T)
Make rs199422165(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197104456
GeneASPM
is asnp
is mentioned by
dbSNPrs199422165
ebirs199422165
HLIrs199422165
Exacrs199422165
Varsomers199422165
Maprs199422165
PheGenIrs199422165
hapmaprs199422165
1000 genomesrs199422165
hgdprs199422165
ensemblrs199422165
gopubmedrs199422165
geneviewrs199422165
scholarrs199422165
googlers199422165
pharmgkbrs199422165
gwascentralrs199422165
openSNPrs199422165
23andMers199422165
23andMe allrs199422165
SNP Nexus

SNPshotrs199422165
SNPdbers199422165
MSV3drs199422165
GWAS Ctlgrs199422165
Max Magnitude0
ClinVar
Risk rs199422165(T;T)
Alt rs199422165(T;T)
Reference rs199422165(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.197073586G>A
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020778.2,