Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
C 0.700 CausalMutation CLINVAR FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. 25126726

2014
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
C 0.700 CausalMutation CLINVAR Birt-Hogg-Dube syndrome is a novel ciliopathy. 23784378

2013
dbSNP: rs375082054
rs375082054
MPRIP ; FLCN
0.700 GeneticVariation UNIPROT Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. 18505456

2008
dbSNP: rs375082054
rs375082054
MPRIP ; FLCN
0.700 GeneticVariation UNIPROT Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 18579543

2008
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
C 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs375082054
rs375082054
MPRIP ; FLCN
0.700 GeneticVariation UNIPROT A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. 15657874

2005
dbSNP: rs398124542
rs398124542
FLCN
CTTCTGTACTCTCTGGCAACACAGGGGCT 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
TG 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
TG 0.700 CausalMutation CLINVAR Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. 12204536

2002
dbSNP: rs1567807517
rs1567807517
MPRIP ; FLCN
G 0.700 GeneticVariation CLINVAR

dbSNP: rs368778627
rs368778627
FLCN
T 0.700 CausalMutation CLINVAR

dbSNP: rs750146811
rs750146811
FLCN
T 0.700 CausalMutation CLINVAR

dbSNP: rs758175953
rs758175953
FLCN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR

dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs886037608
rs886037608
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR

dbSNP: rs886037609
rs886037609
FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs886037610
rs886037610
MPRIP ; FLCN
C 0.700 CausalMutation CLINVAR

dbSNP: rs4733649
rs4733649
CCDC26
0.010 GeneticVariation BEFREE The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). 27203581

2016
dbSNP: rs242557
rs242557
MAPT
0.010 GeneticVariation BEFREE However, one H1-specific SNP (rs242557) previously implicated in PSP did not alter the risk of PD, indicating that distinct H1 sub-haplotypes probably drive the associations with PD and PSP. 19912324

2010