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rs199422136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422136(-;-)
Make rs199422136(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197143250
GeneASPM
is asnp
is mentioned by
dbSNPrs199422136
ebirs199422136
HLIrs199422136
Exacrs199422136
Varsomers199422136
Maprs199422136
PheGenIrs199422136
hapmaprs199422136
1000 genomesrs199422136
hgdprs199422136
ensemblrs199422136
gopubmedrs199422136
geneviewrs199422136
scholarrs199422136
googlers199422136
pharmgkbrs199422136
gwascentralrs199422136
openSNPrs199422136
23andMers199422136
23andMe allrs199422136
SNP Nexus

SNPshotrs199422136
SNPdbers199422136
MSV3drs199422136
GWAS Ctlgrs199422136
Max Magnitude0
ClinVar
Risk rs199422136(;)
Alt rs199422136(;)
Reference rs199422136(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.197112380delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020738.1,