Gene: CFTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
CFTR
0.720 GeneticVariation BEFREE Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP. 10909845

2000
dbSNP: rs78655421
rs78655421
CFTR
0.720 GeneticVariation BEFREE However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR. 10653140

2000
dbSNP: rs141115171
rs141115171
CFTR
0.010 GeneticVariation BEFREE However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR. 10653140

2000
dbSNP: rs397508687
rs397508687
CFTR
0.010 GeneticVariation BEFREE Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP. 10909845

2000
dbSNP: rs76371115
rs76371115
CFTR
0.010 GeneticVariation BEFREE Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP. 10909845

2000