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rs189678019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs189678019(A;G)
Make rs189678019(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197101490
GeneASPM
is asnp
is mentioned by
dbSNPrs189678019
ebirs189678019
HLIrs189678019
Exacrs189678019
Varsomers189678019
Maprs189678019
PheGenIrs189678019
hapmaprs189678019
1000 genomesrs189678019
hgdprs189678019
ensemblrs189678019
gopubmedrs189678019
geneviewrs189678019
scholarrs189678019
googlers189678019
pharmgkbrs189678019
gwascentralrs189678019
openSNPrs189678019
23andMers189678019
23andMe allrs189678019
SNP Nexus

SNPshotrs189678019
SNPdbers189678019
MSV3drs189678019
GWAS Ctlgrs189678019
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs189678019(C,G;C,G)
Alt rs189678019(C,G;C,G)
Reference rs189678019(A;A)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 0
HGVS NC_000001.10:g.197070620A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005246.3,