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rs199422168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422168(C;T)
Make rs199422168(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197103019
GeneASPM
is asnp
is mentioned by
dbSNPrs199422168
ebirs199422168
HLIrs199422168
Exacrs199422168
Varsomers199422168
Maprs199422168
PheGenIrs199422168
hapmaprs199422168
1000 genomesrs199422168
hgdprs199422168
ensemblrs199422168
gopubmedrs199422168
geneviewrs199422168
scholarrs199422168
googlers199422168
pharmgkbrs199422168
gwascentralrs199422168
openSNPrs199422168
23andMers199422168
23andMe allrs199422168
SNP Nexus

SNPshotrs199422168
SNPdbers199422168
MSV3drs199422168
GWAS Ctlgrs199422168
Max Magnitude0
ClinVar
Risk rs199422168(T;T)
Alt rs199422168(T;T)
Reference rs199422168(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.197072149G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020784.1,