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rs137852994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852994(C;T)
Make rs137852994(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197093168
GeneASPM
is asnp
is mentioned by
dbSNPrs137852994
ebirs137852994
HLIrs137852994
Exacrs137852994
Varsomers137852994
Maprs137852994
PheGenIrs137852994
hapmaprs137852994
1000 genomesrs137852994
hgdprs137852994
ensemblrs137852994
gopubmedrs137852994
geneviewrs137852994
scholarrs137852994
googlers137852994
pharmgkbrs137852994
gwascentralrs137852994
openSNPrs137852994
23andMers137852994
23andMe allrs137852994
SNP Nexus

SNPshotrs137852994
SNPdbers137852994
MSV3drs137852994
GWAS Ctlgrs137852994
GMAF0.001837
Max Magnitude0
OMIM605481
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852994(T;T)
Alt rs137852994(T;T)
Reference rs137852994(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 1
HGVS NC_000001.10:g.197062298G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005248.4, RCV000214564.1,