Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567499068
rs1567499068
SCAPER
A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189

2016
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872

2013
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259

2011
dbSNP: rs1057515576
rs1057515576
ARL6
GAAAA 0.700 CausalMutation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691299
rs1131691299
DDX3X
T 0.700 CausalMutation CLINVAR

dbSNP: rs2230288
rs2230288
GBA
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs752078407
rs752078407
PANK2
0.010 GeneticVariation BEFREE Homozygous for p.N404I showed Parkinsonism, tics and personality and speech disorders. 24712887

2015