Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. 11829138

2002
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 10823953

2000
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR

dbSNP: rs1131691965
rs1131691965
TSC2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs118203388
rs118203388
TSC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs118203427
rs118203427
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564488264
rs1564488264
TSC1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567387207
rs1567387207
TSC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1567437155
rs1567437155
TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs45469298
rs45469298
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs45517148
rs45517148
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs45517179
rs45517179
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs45517222
rs45517222
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs45517395
rs45517395
TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs4588
rs4588
GC
0.010 GeneticVariation BEFREE Median time to death or lung transplant was reduced by 46 months in those with <i>CC</i> genotypes at rs4588 and 38 months in those with non-A-containing haplotypes at rs7041/4588 (p=0.014 and 0.008, respectively).The VTDB axis is associated with disease severity and outcome, and <i>GC</i> genotype could help predict transplant-free survival in LAM. 30093573

2018
dbSNP: rs7041
rs7041
GC
0.010 GeneticVariation BEFREE Median time to death or lung transplant was reduced by 46 months in those with <i>CC</i> genotypes at rs4588 and 38 months in those with non-A-containing haplotypes at rs7041/4588 (p=0.014 and 0.008, respectively).The VTDB axis is associated with disease severity and outcome, and <i>GC</i> genotype could help predict transplant-free survival in LAM. 30093573

2018