Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72474224
rs72474224
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs72474224
rs72474224
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.800 CausalMutation CLINVAR

dbSNP: rs35887622
rs35887622
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		G 0.740 CausalMutation CLINVAR Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families. 22668073

2012
dbSNP: rs35887622
rs35887622
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		G 0.740 CausalMutation CLINVAR Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). 16380907

2005
dbSNP: rs80338950
rs80338950
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.730 CausalMutation CLINVAR

dbSNP: rs104894402
rs104894402
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		C 0.720 GeneticVariation CLINVAR

dbSNP: rs80338945
rs80338945
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		G 0.720 CausalMutation CLINVAR

dbSNP: rs80338948
rs80338948
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		A 0.720 CausalMutation CLINVAR

dbSNP: rs104894396
rs104894396
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.710 CausalMutation CLINVAR

dbSNP: rs104894407
rs104894407
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.710 CausalMutation CLINVAR

dbSNP: rs121908354
rs121908354
CDH23
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.710 CausalMutation CLINVAR

dbSNP: rs397516874
rs397516874
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		A 0.710 CausalMutation CLINVAR

dbSNP: rs80338941
rs80338941
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		G 0.710 CausalMutation CLINVAR

dbSNP: rs104894398
rs104894398
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894408
rs104894408
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894409
rs104894409
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516342
rs1057516342
PCDH15
CUI: C1384666
Disease: hearing impairment
hearing impairment 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517303
rs1057517303
SLC26A4
CUI: C1384666
Disease: hearing impairment
hearing impairment 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517519
rs1057517519
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057517966
rs1057517966
MITF
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518799
rs1057518799
POGZ
CUI: C1384666
Disease: hearing impairment
hearing impairment 		TGATTGGCA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518810
rs1057518810
SLC26A4 ; SLC26A4-AS1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518840
rs1057518840
OTOF
CUI: C1384666
Disease: hearing impairment
hearing impairment 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518908
rs1057518908
COL2A1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.700 GeneticVariation CLINVAR