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rs137852996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852996(C;T)
Make rs137852996(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197144049
GeneASPM
is asnp
is mentioned by
dbSNPrs137852996
ebirs137852996
HLIrs137852996
Exacrs137852996
Varsomers137852996
Maprs137852996
PheGenIrs137852996
hapmaprs137852996
1000 genomesrs137852996
hgdprs137852996
ensemblrs137852996
gopubmedrs137852996
geneviewrs137852996
scholarrs137852996
googlers137852996
pharmgkbrs137852996
gwascentralrs137852996
openSNPrs137852996
23andMers137852996
23andMe allrs137852996
SNP Nexus

SNPshotrs137852996
SNPdbers137852996
MSV3drs137852996
GWAS Ctlgrs137852996
Max Magnitude0
OMIM605481
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852996(T;T)
Alt rs137852996(T;T)
Reference rs137852996(C;C)
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.197113179G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005250.3,