Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1249050389
rs1249050389
0.010 GeneticVariation BEFREE The effect of HH pathway hyperactivation (due to c.573C>G mutation on PTCH1 gene that cause NBCCS) on renal ADPKD progression in the proband was compared to 18 age- and sex-matched ADPKD patients in a 9-year, prospective, follow-up study. 30368514

2018

dbSNP: rs755103500
rs755103500
0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801

2009

dbSNP: rs766905791
rs766905791
0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801

2009

dbSNP: rs773304123
rs773304123
0.010 GeneticVariation BEFREE PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway. 18285427

2008

dbSNP: rs1131690985
rs1131690985
0.010 GeneticVariation BEFREE Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration. 10890722

2000