Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894403
rs104894403
0.710 GeneticVariation BEFREE A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. 10369869

1999

dbSNP: rs104894403
rs104894403
A 0.710 GeneticVariation CLINVAR

dbSNP: rs1555817157
rs1555817157
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018

dbSNP: rs1135401743
rs1135401743
T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

dbSNP: rs1057516039
rs1057516039
T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs1131692056
rs1131692056
T 0.700 CausalMutation CLINVAR A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease. 27329761

2016

dbSNP: rs752298579
rs752298579
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016

dbSNP: rs758723288
rs758723288
A 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs587781262
rs587781262
G 0.700 CausalMutation CLINVAR The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 25182139

2015

dbSNP: rs587781263
rs587781263
T 0.700 CausalMutation CLINVAR The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 25182139

2015

dbSNP: rs1057517694
rs1057517694
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517695
rs1057517695
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518895
rs1057518895
G 0.700 GeneticVariation CLINVAR

dbSNP: rs111033437
rs111033437
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1302739538
rs1302739538
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1348505504
rs1348505504
A 0.700 GeneticVariation CLINVAR

dbSNP: rs144948296
rs144948296
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553212868
rs1553212868
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555661648
rs1555661648
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555741826
rs1555741826
G 0.700 CausalMutation CLINVAR

dbSNP: rs1558939623
rs1558939623
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1559320299
rs1559320299
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1564494285
rs1564494285
RET
C 0.700 CausalMutation CLINVAR

dbSNP: rs1566304640
rs1566304640
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1567498374
rs1567498374
A 0.700 CausalMutation CLINVAR