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rs748529285

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748529285(A;A)
Make rs748529285(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197088357
GeneASPM
is asnp
is mentioned by
dbSNPrs748529285
ebirs748529285
HLIrs748529285
Exacrs748529285
Varsomers748529285
Maprs748529285
PheGenIrs748529285
hapmaprs748529285
1000 genomesrs748529285
hgdprs748529285
ensemblrs748529285
gopubmedrs748529285
geneviewrs748529285
scholarrs748529285
googlers748529285
pharmgkbrs748529285
gwascentralrs748529285
openSNPrs748529285
23andMers748529285
23andMe allrs748529285
SNP Nexus

SNPshotrs748529285
SNPdbers748529285
MSV3drs748529285
GWAS Ctlgrs748529285
Max Magnitude0
ClinVar
Risk rs748529285(A;A)
Alt rs748529285(A;A)
Reference rs748529285(G;G)
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.197057487G>A
CLNSRC
CLNACC RCV000194402.1,