Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894403
rs104894403
GJB2
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
GJB2
A 0.710 GeneticVariation CLINVAR

dbSNP: rs1057518895
rs1057518895
AIFM1 ; RAB33A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs111033437
rs111033437
MYO7A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1302739538
rs1302739538
GJB2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1348505504
rs1348505504
GIPC3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1558939623
rs1558939623
CHN1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1559320299
rs1559320299
PAX3 ; CCDC140
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs281874674
rs281874674
COL4A5
C 0.700 GeneticVariation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs745434198
rs745434198
COL11A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs758723288
rs758723288
ECHS1
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: rs772606235
rs772606235
TECTA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs72474224
rs72474224
GJB2
0.050 GeneticVariation BEFREE Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss. 12121355

2002
dbSNP: rs72474224
rs72474224
GJB2
0.050 GeneticVariation BEFREE Homozygosity for the V37I GJB2 mutation may be a more common pathogenic missense mutation in Asian populations, resulting in mild to moderate sensorineural hearing impairment. 23873582

2013
dbSNP: rs72474224
rs72474224
GJB2
0.050 GeneticVariation BEFREE We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosity for the 235delC and V37I mutations in the GJB2 gene. 16952406

2006
dbSNP: rs72474224
rs72474224
GJB2
0.050 GeneticVariation BEFREE Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is common in people of Asian background. 16840571

2006
dbSNP: rs72474224
rs72474224
GJB2
0.050 GeneticVariation BEFREE This study examines the pathogenicity of V37I by comparing the frequency of this allele in 40 patients with SNHL of Chinese and Caucasian descent with the frequency of the allele in 100 anonymized, ethnically matched controls. 17036313

2006
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. 10903123

2000
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE In addition, we found three patients with compound p.M34T mutation also exhibiting mild to moderate SNHI. 22668073

2012
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. 11134236

2001
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE Patients with M34T mutations and/or mild SNHL had a low risk of progression. 19235794

2009