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rs199422138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422138(-;-)
Make rs199422138(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197143073
GeneASPM
is asnp
is mentioned by
dbSNPrs199422138
ebirs199422138
HLIrs199422138
Exacrs199422138
Varsomers199422138
Maprs199422138
PheGenIrs199422138
hapmaprs199422138
1000 genomesrs199422138
hgdprs199422138
ensemblrs199422138
gopubmedrs199422138
geneviewrs199422138
scholarrs199422138
googlers199422138
pharmgkbrs199422138
gwascentralrs199422138
openSNPrs199422138
23andMers199422138
23andMe allrs199422138
SNP Nexus

SNPshotrs199422138
SNPdbers199422138
MSV3drs199422138
GWAS Ctlgrs199422138
Max Magnitude0
ClinVar
Risk rs199422138(;)
Alt rs199422138(;)
Reference rs199422138(T;T)
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.197112203delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020741.1,