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rs759632528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs759632528(-;T)
Make rs759632528(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197117893
GeneASPM
is asnp
is mentioned by
dbSNPrs759632528
ClinGenrs759632528
ebirs759632528
HLIrs759632528
Exacrs759632528
Varsomers759632528
Maprs759632528
PheGenIrs759632528
hapmaprs759632528
1000 genomesrs759632528
hgdprs759632528
ensemblrs759632528
gopubmedrs759632528
geneviewrs759632528
scholarrs759632528
googlers759632528
pharmgkbrs759632528
gwascentralrs759632528
openSNPrs759632528
23andMers759632528
23andMe allrs759632528
SNP Nexus

SNPshotrs759632528
SNPdbers759632528
MSV3drs759632528
GWAS Ctlgrs759632528
Max Magnitude0
ClinVar
Risk rs759632528(T;T)
Alt rs759632528(T;T)
Reference Rs759632528(-;-)
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.197087023_197087024insT
CLNSRC
CLNACC RCV000193074.1,