Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852997(G;G)
Make rs137852997(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197103062
GeneASPM
is asnp
is mentioned by
dbSNPrs137852997
ebirs137852997
HLIrs137852997
Exacrs137852997
Varsomers137852997
Maprs137852997
PheGenIrs137852997
hapmaprs137852997
1000 genomesrs137852997
hgdprs137852997
ensemblrs137852997
gopubmedrs137852997
geneviewrs137852997
scholarrs137852997
googlers137852997
pharmgkbrs137852997
gwascentralrs137852997
openSNPrs137852997
23andMers137852997
23andMe allrs137852997
SNP Nexus

SNPshotrs137852997
SNPdbers137852997
MSV3drs137852997
GWAS Ctlgrs137852997
Max Magnitude0
OMIM605481
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852997(G;G)
Alt rs137852997(G;G)
Reference rs137852997(T;T)
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.197072192A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005251.4,