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rs137852995

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852995(A;A)
Make rs137852995(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197117876
GeneASPM
is asnp
is mentioned by
dbSNPrs137852995
ebirs137852995
HLIrs137852995
Exacrs137852995
Varsomers137852995
Maprs137852995
PheGenIrs137852995
hapmaprs137852995
1000 genomesrs137852995
hgdprs137852995
ensemblrs137852995
gopubmedrs137852995
geneviewrs137852995
scholarrs137852995
googlers137852995
pharmgkbrs137852995
gwascentralrs137852995
openSNPrs137852995
23andMers137852995
23andMe allrs137852995
SNP Nexus

SNPshotrs137852995
SNPdbers137852995
MSV3drs137852995
GWAS Ctlgrs137852995
Max Magnitude0
OMIM605481
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852995(A;A)
Alt rs137852995(A;A)
Reference rs137852995(G;G)
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.197087006C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005249.3,