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rs797045311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045311(-;T)
Make rs797045311(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197128489
GeneASPM
is asnp
is mentioned by
dbSNPrs797045311
ClinGenrs797045311
ebirs797045311
HLIrs797045311
Exacrs797045311
Varsomers797045311
Maprs797045311
PheGenIrs797045311
hapmaprs797045311
1000 genomesrs797045311
hgdprs797045311
ensemblrs797045311
gopubmedrs797045311
geneviewrs797045311
scholarrs797045311
googlers797045311
pharmgkbrs797045311
gwascentralrs797045311
openSNPrs797045311
23andMers797045311
23andMe allrs797045311
SNP Nexus

SNPshotrs797045311
SNPdbers797045311
MSV3drs797045311
GWAS Ctlgrs797045311
Max Magnitude0
ClinVar
Risk rs797045311(T;T)
Alt rs797045311(T;T)
Reference Rs797045311(-;-)
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.197097620dupA
CLNSRC
CLNACC RCV000194072.1,