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rs497116

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs497116(C;C)
Make rs497116(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position104892390
GeneCASP12
is asnp
is mentioned by
dbSNPrs497116
ebirs497116
HLIrs497116
Exacrs497116
Varsomers497116
Maprs497116
PheGenIrs497116
hapmaprs497116
1000 genomesrs497116
hgdprs497116
ensemblrs497116
gopubmedrs497116
geneviewrs497116
scholarrs497116
googlers497116
pharmgkbrs497116
gwascentralrs497116
openSNPrs497116
23andMers497116
23andMe allrs497116
SNP Nexus

SNPshotrs497116
SNPdbers497116
MSV3drs497116
GWAS Ctlgrs497116
GMAF0.03994
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 22615879OA-icon.png] The loss of functional caspase-12 in europe is a pre-neolithic event.


[PMID 18852891OA-icon.png] Distribution and effects of nonsense polymorphisms in human genes.


[PMID 19200524OA-icon.png] A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.


[PMID 20210993OA-icon.png] Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates.


GET Evidence
CASP12-R125X
aa_change Arg125Stop
aa_change_short R125X
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.960938
summary



ClinVar
Risk rs497116(T;T)
Alt rs497116(T;T)
Reference rs497116(C;C)
Significance Other
Disease Sepsis
Variation info
Gene CASP12
CLNDBN Sepsis, susceptibility to
Reversed 1
HGVS NC_000011.9:g.104763117G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002255.2,