Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60310264
rs60310264
LMNA
0.820 GeneticVariation UNIPROT

dbSNP: rs142000963
rs142000963
LMNA
0.710 GeneticVariation UNIPROT

dbSNP: rs56673169
rs56673169
LMNA
0.710 GeneticVariation UNIPROT

dbSNP: rs57629361
rs57629361
LMNA
A 0.710 GeneticVariation CLINVAR

dbSNP: rs113436208
rs113436208
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs113860699
rs113860699
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs113860699
rs113860699
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs28928902
rs28928902
LMNA
0.700 GeneticVariation UNIPROT

dbSNP: rs386134243
rs386134243
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs59885338
rs59885338
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs60652225
rs60652225
LMNA
0.700 GeneticVariation UNIPROT

dbSNP: rs797044488
rs797044488
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs797045011
rs797045011
LMNA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE HGPS is usually caused by a de novo C1824T mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. 24603298

2014
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE HGPS is usually caused by a de novo C1824T mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. 24603298

2014
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE HGPS is due to a single-base substitution in exon 11 of the LMNA gene (c.1824C>T) leading to the production of a toxic form of the prelamin A protein called progerin. 26890144

2016
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE HGPS is due to a single-base substitution in exon 11 of the LMNA gene (c.1824C>T) leading to the production of a toxic form of the prelamin A protein called progerin. 26890144

2016
dbSNP: rs58912633
rs58912633
LMNA
0.730 GeneticVariation BEFREE p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 15622532

2005
dbSNP: rs797044486
rs797044486
LMNA
A 0.700 CausalMutation CLINVAR A new lamin a mutation associated with acrogeria syndrome. 24687084

2014
dbSNP: rs797044485
rs797044485
LMNA
A 0.700 CausalMutation CLINVAR A novel lamin A/C mutation in a Dutch family with premature atherosclerosis. 23659872

2013
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has been shown to be the cause of most cases of HGPS. 25216752

2014
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has been shown to be the cause of most cases of HGPS. 25216752

2014
dbSNP: rs58596362
rs58596362
LMNA
T 0.790 CausalMutation CLINVAR Altered splicing in prelamin A-associated premature aging phenotypes. 17076270

2006
dbSNP: rs60310264
rs60310264
LMNA
0.820 GeneticVariation BEFREE Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus. 21941106

2013