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rs199422133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422133(-;-)
Make rs199422133(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197143958
GeneASPM
is asnp
is mentioned by
dbSNPrs199422133
ebirs199422133
HLIrs199422133
Exacrs199422133
Varsomers199422133
Maprs199422133
PheGenIrs199422133
hapmaprs199422133
1000 genomesrs199422133
hgdprs199422133
ensemblrs199422133
gopubmedrs199422133
geneviewrs199422133
scholarrs199422133
googlers199422133
pharmgkbrs199422133
gwascentralrs199422133
openSNPrs199422133
23andMers199422133
23andMe allrs199422133
SNP Nexus

SNPshotrs199422133
SNPdbers199422133
MSV3drs199422133
GWAS Ctlgrs199422133
Max Magnitude0
ClinVar
Risk rs199422133(;)
Alt rs199422133(;)
Reference rs199422133(A;A)
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.197113088delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020775.1,