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rs797045314

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045314(G;G)
Make rs797045314(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197103719
GeneASPM
is asnp
is mentioned by
dbSNPrs797045314
ebirs797045314
HLIrs797045314
Exacrs797045314
Varsomers797045314
Maprs797045314
PheGenIrs797045314
hapmaprs797045314
1000 genomesrs797045314
hgdprs797045314
ensemblrs797045314
gopubmedrs797045314
geneviewrs797045314
scholarrs797045314
googlers797045314
pharmgkbrs797045314
gwascentralrs797045314
openSNPrs797045314
23andMers797045314
23andMe allrs797045314
SNP Nexus

SNPshotrs797045314
SNPdbers797045314
MSV3drs797045314
GWAS Ctlgrs797045314
Max Magnitude0
ClinVar
Risk rs797045314(G;G)
Alt rs797045314(G;G)
Reference rs797045314(T;T)
Significance Probable-Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 1
HGVS NC_000001.10:g.197072849A>C
CLNSRC
CLNACC RCV000193186.1,