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rs797045316

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045316(-;A)
Make rs797045316(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197101393
GeneASPM
is asnp
is mentioned by
dbSNPrs797045316
ClinGenrs797045316
ebirs797045316
HLIrs797045316
Exacrs797045316
Varsomers797045316
Maprs797045316
PheGenIrs797045316
hapmaprs797045316
1000 genomesrs797045316
hgdprs797045316
ensemblrs797045316
gopubmedrs797045316
geneviewrs797045316
scholarrs797045316
googlers797045316
pharmgkbrs797045316
gwascentralrs797045316
openSNPrs797045316
23andMers797045316
23andMe allrs797045316
SNP Nexus

SNPshotrs797045316
SNPdbers797045316
MSV3drs797045316
GWAS Ctlgrs797045316
Max Magnitude0
ClinVar
Risk rs797045316(A;A)
Alt rs797045316(A;A)
Reference Rs797045316(;)
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.197070524dupT
CLNSRC
CLNACC RCV000192379.1,