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rs12338

From SNPedia

Orientationminus
Stabilizedminus
Make rs12338(C;C)
Make rs12338(C;G)
Make rs12338(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position11853379
GeneCTSB
is asnp
is mentioned by
dbSNPrs12338
ebirs12338
HLIrs12338
Exacrs12338
Varsomers12338
Maprs12338
PheGenIrs12338
hapmaprs12338
1000 genomesrs12338
hgdprs12338
ensemblrs12338
gopubmedrs12338
geneviewrs12338
scholarrs12338
googlers12338
pharmgkbrs12338
gwascentralrs12338
openSNPrs12338
23andMers12338
23andMe allrs12338
SNP Nexus

SNPshotrs12338
SNPdbers12338
MSV3drs12338
GWAS Ctlgrs12338
GMAF0.4054
Max Magnitude
? (C;C) (C;G) (G;G) 28
OMIM608189
DescTROPICAL CALCIFIC PANCREATITIS
Variant
Relatedalso
OMIM116810
DescCATHEPSIN B; CTSB
Variant
Relatedalso


GET Evidence
CTSB-L26V
aa_change Leu26Val
aa_change_short L26V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.363915
summary



[PMID 22851129] Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancer.


[PMID 25106406] A4383C and C76G SNP in Cathepsin B is respectively associated with the high risk and tumor size of hepatocarcinoma