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rs199422153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422153(C;T)
Make rs199422153(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197125073
GeneASPM
is asnp
is mentioned by
dbSNPrs199422153
ebirs199422153
HLIrs199422153
Exacrs199422153
Varsomers199422153
Maprs199422153
PheGenIrs199422153
hapmaprs199422153
1000 genomesrs199422153
hgdprs199422153
ensemblrs199422153
gopubmedrs199422153
geneviewrs199422153
scholarrs199422153
googlers199422153
pharmgkbrs199422153
gwascentralrs199422153
openSNPrs199422153
23andMers199422153
23andMe allrs199422153
SNP Nexus

SNPshotrs199422153
SNPdbers199422153
MSV3drs199422153
GWAS Ctlgrs199422153
Max Magnitude0
ClinVar
Risk rs199422153(T;T)
Alt rs199422153(T;T)
Reference rs199422153(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.197094203G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020761.1,