Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908755
rs121908755
CFTR
0.830 GeneticVariation BEFREE A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb C>T and p.S549N. 17716958

2008
dbSNP: rs121908755
rs121908755
CFTR
0.830 GeneticVariation BEFREE Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family. 7680378

1993
dbSNP: rs121908755
rs121908755
CFTR
0.830 GeneticVariation BEFREE The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K. 1718974

1991