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rs143931757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143931757(A;G)
Make rs143931757(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090994
GeneASPM
is asnp
is mentioned by
dbSNPrs143931757
ebirs143931757
HLIrs143931757
Exacrs143931757
Varsomers143931757
Maprs143931757
PheGenIrs143931757
hapmaprs143931757
1000 genomesrs143931757
hgdprs143931757
ensemblrs143931757
gopubmedrs143931757
geneviewrs143931757
scholarrs143931757
googlers143931757
pharmgkbrs143931757
gwascentralrs143931757
openSNPrs143931757
23andMers143931757
23andMe allrs143931757
SNP Nexus

SNPshotrs143931757
SNPdbers143931757
MSV3drs143931757
GWAS Ctlgrs143931757
Max Magnitude0
ClinVar
Risk rs143931757(C,G;C,G)
Alt rs143931757(C,G;C,G)
Reference rs143931757(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.197060124A>C; NC_000001.10:g.197060124A>G
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020816.1, RCV000145236.1,