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rs797045315

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045315(-;T)
Make rs797045315(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197101942
GeneASPM
is asnp
is mentioned by
dbSNPrs797045315
ClinGenrs797045315
ebirs797045315
HLIrs797045315
Exacrs797045315
Varsomers797045315
Maprs797045315
PheGenIrs797045315
hapmaprs797045315
1000 genomesrs797045315
hgdprs797045315
ensemblrs797045315
gopubmedrs797045315
geneviewrs797045315
scholarrs797045315
googlers797045315
pharmgkbrs797045315
gwascentralrs797045315
openSNPrs797045315
23andMers797045315
23andMe allrs797045315
SNP Nexus

SNPshotrs797045315
SNPdbers797045315
MSV3drs797045315
GWAS Ctlgrs797045315
Max Magnitude0
ClinVar
Risk rs797045315(T;T)
Alt rs797045315(T;T)
Reference Rs797045315(;)
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.197071073dupA
CLNSRC
CLNACC RCV000193254.1,