Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918550
rs121918550
AAAS
G 0.700 CausalMutation CLINVAR Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. 26622478

2015
dbSNP: rs121918550
rs121918550
AAAS
G 0.700 CausalMutation CLINVAR Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. 16098009

2005
dbSNP: rs121918550
rs121918550
AAAS
G 0.700 CausalMutation CLINVAR Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. 6243664

1980
dbSNP: rs121918550
rs121918550
AAAS
G 0.700 CausalMutation CLINVAR Triple A syndrome: genotype-phenotype assessment. 12752575

2003
dbSNP: rs121918550
rs121918550
AAAS
G 0.700 CausalMutation CLINVAR Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. 1537368

1992
dbSNP: rs121918550
rs121918550
AAAS
G 0.700 CausalMutation CLINVAR Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. 18628786

2008
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
A 0.700 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
A 0.700 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
A 0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
A 0.700 CausalMutation CLINVAR Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
dbSNP: rs368934219
rs368934219
AARS2 ; TMEM151B
C 0.700 CausalMutation CLINVAR Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
dbSNP: rs368934219
rs368934219
AARS2 ; TMEM151B
C 0.700 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
dbSNP: rs368934219
rs368934219
AARS2 ; TMEM151B
C 0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
dbSNP: rs368934219
rs368934219
AARS2 ; TMEM151B
C 0.700 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Cantú syndrome is caused by mutations in ABCC9. 22608503

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. 16835932

2006
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 21344641

2011
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405

2007
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537

2013
dbSNP: rs267604368
rs267604368
ACAN
T 0.700 GeneticVariation CLINVAR Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients. 21948754

2011
dbSNP: rs267604368
rs267604368
ACAN
T 0.700 GeneticVariation CLINVAR Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. 1978986

1990
dbSNP: rs267604368
rs267604368
ACAN
T 0.700 GeneticVariation CLINVAR Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism. 12626230

2003