Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17107315
rs17107315
0.750 GeneticVariation BEFREE Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants. 19404200

2009

dbSNP: rs17107315
rs17107315
0.750 GeneticVariation BEFREE N34S SPINK1 represents the major genetic risk factor in TCP. 19077465

2009

dbSNP: rs17107315
rs17107315
0.750 GeneticVariation BEFREE The minor allele frequency for rs7903146 was different between TCP and FCPD patients carrying the N34S SPINK1 variant but did not reach statistical significance (OR = 1.59, 95% CI = 0.93-2.70, P = 0.09), while, TCF7L2variant showed a statistically significant association between TCP and FCPD patients carrying the 26V allele (OR = 1.69, 95% CI = 1.11-2.56, P = 0.013). 18706099

2008

dbSNP: rs17107315
rs17107315
0.750 GeneticVariation BEFREE As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to play a modifier role, these variants may be critical as a trigger for cationic trypsinogen activation. 16492714

2006

dbSNP: rs17107315
rs17107315
0.750 GeneticVariation BEFREE TCP is highly associated with the SPINK1 N34S mutation. 12360463

2002

dbSNP: rs17107315
rs17107315
0.750 GeneticVariation UNIPROT Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. 12011155

2002

dbSNP: rs17107315
rs17107315
0.750 GeneticVariation UNIPROT SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. 12187509

2002

dbSNP: rs148954387
rs148954387
G 0.700 CausalMutation CLINVAR

dbSNP: rs777418530
rs777418530
0.020 GeneticVariation BEFREE N34S SPINK1 represents the major genetic risk factor in TCP. 19077465

2009

dbSNP: rs12338
rs12338
0.020 GeneticVariation BEFREE No statistically significant association of the SNPs was observed with TCP or FCPD or between carriers and non-carriers of N34S SPINK1 and L26V CTSB mutations. 18706099

2008

dbSNP: rs747940576
rs747940576
0.020 GeneticVariation BEFREE The minor allele frequency for rs7903146 was different between TCP and FCPD patients carrying the N34S SPINK1 variant but did not reach statistical significance (OR = 1.59, 95% CI = 0.93-2.70, P = 0.09), while, TCF7L2variant showed a statistically significant association between TCP and FCPD patients carrying the 26V allele (OR = 1.69, 95% CI = 1.11-2.56, P = 0.013). 18706099

2008

dbSNP: rs776941569
rs776941569
0.020 GeneticVariation BEFREE No statistically significant association of the SNPs was observed with TCP or FCPD or between carriers and non-carriers of N34S SPINK1 and L26V CTSB mutations. 18706099

2008

dbSNP: rs1223231582
rs1223231582
0.020 GeneticVariation BEFREE As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to play a modifier role, these variants may be critical as a trigger for cationic trypsinogen activation. 16492714

2006

dbSNP: rs12338
rs12338
0.020 GeneticVariation BEFREE This significant association of Leu26Val with TCP was replicated in another cohort (OR 2.10 (95% CI 1.56-2.84); p = 0.013). 16492714

2006

dbSNP: rs747940576
rs747940576
0.020 GeneticVariation BEFREE As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to play a modifier role, these variants may be critical as a trigger for cationic trypsinogen activation. 16492714

2006

dbSNP: rs776941569
rs776941569
0.020 GeneticVariation BEFREE This significant association of Leu26Val with TCP was replicated in another cohort (OR 2.10 (95% CI 1.56-2.84); p = 0.013). 16492714

2006

dbSNP: rs1223231582
rs1223231582
0.020 GeneticVariation BEFREE TCP is highly associated with the SPINK1 N34S mutation. 12360463

2002

dbSNP: rs777418530
rs777418530
0.020 GeneticVariation BEFREE TCP is highly associated with the SPINK1 N34S mutation. 12360463

2002

dbSNP: rs8099917
rs8099917
0.010 GeneticVariation BEFREE Under favorable conditions such as treatment-naïve/prior relapse and interleukin-28B (IL28B) TT allele (rs8099917), the SVR rates of the Spx group were significantly higher than those of the non-Spx/moderate TCP (60-79 × 10(9) /L) groups (91.3% vs 50.0% and 93.8% vs 37.5%, respectively; both P < 0.05). 24731162

2014

dbSNP: rs61734659
rs61734659
0.010 GeneticVariation BEFREE G191R was detected in 1 TCP patient (0.6%) compared to 13 controls (1.6%; OR 0.27, 95% CI 0.03-2.1; p = 0.33). 19077465

2009

dbSNP: rs748405415
rs748405415
0.010 GeneticVariation BEFREE G191R was detected in 1 TCP patient (0.6%) compared to 13 controls (1.6%; OR 0.27, 95% CI 0.03-2.1; p = 0.33). 19077465

2009

dbSNP: rs557826746
rs557826746
0.010 GeneticVariation BEFREE No statistically significant association of the SNPs was observed with TCP or FCPD or between carriers and non-carriers of N34S SPINK1 and L26V CTSB mutations. 18706099

2008

dbSNP: rs7903146
rs7903146
0.010 GeneticVariation BEFREE The minor allele frequency for rs7903146 was different between TCP and FCPD patients carrying the N34S SPINK1 variant but did not reach statistical significance (OR = 1.59, 95% CI = 0.93-2.70, P = 0.09), while, TCF7L2variant showed a statistically significant association between TCP and FCPD patients carrying the 26V allele (OR = 1.69, 95% CI = 1.11-2.56, P = 0.013). 18706099

2008

dbSNP: rs768051473
rs768051473
0.010 GeneticVariation BEFREE This significant association of Leu26Val with TCP was replicated in another cohort (OR 2.10 (95% CI 1.56-2.84); p = 0.013). 16492714

2006