GJB2

143 SNPs in the GJB2 gene, 74 with a genotype of magnitude 2 or higher.

Type: Gene
SNPs: 143
Notable: 74Magnitude 2 or higher
Well documented: 5
Genosets: 0

GJB2 SNPs

Every genotype, as shown in 23andMe and AncestryDNA files.

rs28931594Very important
- T;TDeafness and keratitis; possible dominant or recessiveBad
- C;TDeafness and keratitis; possible dominant or recessiveBad
- C;Ccommon in clinvarGood
- A;CDeafness and keratitis; possible dominant or recessiveBad
- A;ADeafness and keratitis; possible dominant or recessiveBad
rs80338943Very important
- -;-deafness associatedBad
- -;Gcarrier of deafness-associated variantBad
- G;Gcommon in clinvarGood
rs35887622Important
- A;Anormal hearingGood
- A;CCarrier of a recessive deafness mutationBad
- A;GVariant of unclear significance wrt deafnessBad
- G;GVariant of unclear significance wrt deafnessBad
rs80338947Important
- -;GAGCarrier of a recessive deafness mutationBad
- GAG;GAGcommon in clinvarGood
rs2274084Typical
- C;Ccommon genotypeGood
i4000435Very important
- D;Ddeafness-associatedBad
- D;Icarrier for deafness-associated variantBad
- I;INo summary available.Good
rs28929485Very important
- G;Gcommon in clinvarGood
- A;GDeafness and keratitis; possible dominant or recessiveBad
- C;CNo summary available.Not rated
- A;ADeafness and keratitis; possible dominant or recessiveBad
rs28931593Very important
- C;TPalmoplantar keratoderma with deafnessBad
- G;GNo summary available.Not rated
- C;Ccommon in clinvarGood
rs72561723Very important
- T;TDeafness and keratitis; possible dominant or recessiveBad
- C;TDeafness and keratitis; possible dominant or recessiveBad
- C;Ccommon in clinvarGood
rs80338939Very important
- -;-deafness associatedBad
- -;Ccarrier of most common deafness-associated variant in CaucasiansBad
- C;Ccommon in clinvarGood
rs80338942Very important
- -;-deafness associatedBad
- -;Acarrier of deafness-associated variantBad
- A;Acommon in clinvarGood
rs104894404Very important
- C;TNonsyndromic hearing loss and deafnessBad
- C;GPalmoplantar keratoderma with deafnessBad
- C;Ccommon in clinvarGood
rs104894408Very important
- G;GDeafness and keratitis; possible dominant or recessiveBad
- C;GDeafness and keratitis; possible dominant or recessiveBad
- C;Ccommon in clinvarGood
rs104894410Very important
- C;Tknuckle pads, leukonychia, and deafnessBad
- C;Ccommon in clinvarGood
rs104894412Very important
- G;Tknuckle pads, leukonychia, and deafnessBad
- G;Gcommon in clinvarGood
rs121912968Very important
- T;Tcommon in clinvarGood
- C;TPalmoplantar keratoderma with deafnessBad
rs28931595Very important
- C;TDeafness mutation (dominant)Bad
- C;Ccommon in clinvarGood
rs80338950Very important
- C;GDeafness mutation (dominant)Bad
- C;Ccommon in clinvarGood
rs104894401Very important
- C;TDeafness mutation (dominant)Bad
- C;Ccommon in clinvarGood
rs104894402Very important
- G;Gcommon in clinvarGood
- A;GDeafness mutation (dominant)Bad
rs104894406Very important
- C;Ccommon in clinvarGood
- A;CDeafness mutation (dominant)Bad
rs104894407Very important
- C;TCarrier of a recessive deafness mutationBad
- C;GDeafness mutation (dominant)Bad
- C;Ccommon in clinvarGood
rs104894413Very important
- C;TCarrier of a recessive deafness mutationBad
- C;GDeafness mutation (dominant)Bad
- C;Ccommon in clinvarGood
rs1801002Important
- C;Ccommon in clinvarGood
- A;CCarrier of a recessive deafness mutationBad
- GT;GTcommon in clinvarGood
- I;INo summary available.Good
rs28931592Important
- T;Tcommon in clinvarGood
- A;TCarrier of a recessive deafness mutationBad
- A;ANo summary available.Not rated
rs72474224Important
- A;CCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
- C;TCarrier of a recessive deafness mutationBad
rs80338940Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
rs80338941Important
- C;GCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
rs80338944Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
rs80338945Important
- A;GCarrier of a recessive deafness mutationBad
- A;Acommon in clinvarGood
rs80338946Important
- A;CCarrier of a recessive deafness mutationBad
- A;Acommon in clinvarGood
rs80338948Important
- G;Gcommon in clinvarGood
- A;GCarrier of a recessive deafness mutationBad
rs80338949Important
- T;Tcommon in clinvarGood
- C;TCarrier of a recessive deafness mutationBad
rs104894395Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
rs104894396Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
rs104894397Important
- A;GCarrier of a recessive deafness mutationBad
- A;Acommon in clinvarGood
rs104894398Important
- C;Ccommon in clinvarGood
- A;CCarrier of a recessive deafness mutationBad
rs104894409Important
- C;TCarrier of a recessive deafness mutationBad
- C;GCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
- A;CCarrier of a recessive deafness mutationBad
rs111033190Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
rs111033194Important
- T;Tcommon/normalGood
- G;TCarrier of a recessive deafness mutationBad
rs111033204Important
- -;ATCarrier of a recessive deafness mutationBad
- AT;ATcommon in clinvarGood
rs111033217Important
- T;Tcommon in clinvarGood
- G;TCarrier of a recessive deafness mutationBad
rs111033253Important
- -;AAGTTCATCAAGGGCarrier of a recessive deafness mutationBad
- AAGTTCATCAAGGG;AAGTTCATCAAGGGcommon in clinvarGood
rs111033293Important
- T;Tcommon in clinvarGood
- C;TCarrier of a recessive deafness mutationBad
rs111033294Important
- T;Tcommon in clinvarGood
- C;TCarrier of a recessive deafness mutationBad
rs111033295Important
- T;Tcommon in clinvarGood
- A;TCarrier of a recessive deafness mutationBad
rs111033296Important
- G;Gcommon in clinvarGood
- C;GCarrier of a recessive deafness mutationBad
rs111033297Important
- G;Gcommon in clinvarGood
- A;GCarrier of a recessive deafness mutationBad
rs111033299Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
rs111033335Important
- CAGTGTTCATGACATTC;GTGTCTGGACarrier of a recessive deafness mutationBad
- GTGTCTGGA;GTGTCTGGAcommon in clinvarGood
rs111033401Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
rs111033451Important
- G;Gcommon in clinvarGood
- A;GCarrier of a recessive deafness mutationBad
rs143343083Important
- A;GCarrier of a recessive deafness mutationBad
- G;Gcommon in clinvarGood
rs150529554Important
- C;Ccommon in clinvarGood
- C;TCarrier of a recessive deafness mutationBad
rs200023879Important
- C;GCarrier of a recessive deafness mutationBad
- G;Gcommon in clinvarGood
rs371024165Important
- A;GCarrier of a recessive deafness mutationBad
- G;Gcommon in clinvarGood
rs397516874Important
- G;Gcommon in clinvarGood
- A;GCarrier of a recessive deafness mutationBad
rs397516875Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon/normalGood
rs398123814Important
- -;-common in clinvarGood
- -;CCarrier of a recessive deafness mutationBad
rs529500747Important
- A;GCarrier of a recessive deafness mutationBad
- G;Gcommon/normalGood
rs532203068Important
- C;TCarrier of a recessive deafness mutationBad
- T;Tcommon/normalGood
rs587783646Important
- -;GTCarrier of a recessive deafness mutationBad
- GT;GTcommon in clinvarGood
rs587783647Important
- -;GATACarrier of a recessive deafness mutationBad
- GATA;GATAcommon in clinvarGood
rs730880338Important
- -;-common/normalGood
- -;ACarrier of a recessive deafness mutationBad
rs756484720Important
- -;-Carrier of a recessive deafness mutationBad
- TT;TTcommon in clinvarGood
rs767178508Important
- A;CCarrier of a recessive deafness mutationBad
- C;Ccommon/normalGood
- C;TCarrier of a recessive deafness mutationBad
rs771748289Important
- A;GCarrier of a recessive deafness mutationBad
- G;Gcommon in clinvarGood
rs772264564Important
- A;Acommon in clinvarGood
- A;TCarrier of a recessive deafness mutationBad
rs773528125Important
- -;-common in clinvarGood
- -;CGTTCarrier of a recessive deafness mutationBad
- D;Dcommon genotypeGood
rs781534323Important
- C;GCarrier of a recessive deafness mutationBad
- G;Gcommon in clinvarGood
rs786204491Important
- -;-common in clinvarGood
- -;TCarrier of a recessive deafness mutationBad
rs786204597Important
- C;TCarrier of a recessive deafness mutationBad
- C;Ccommon in clinvarGood
- A;CCarrier of a recessive deafness mutationBad
rs786204690Important
- G;TCarrier of a recessive deafness mutationBad
- G;Gcommon in clinvarGood
rs786204734Important
- C;Ccommon in clinvarGood
- A;CCarrier of a recessive deafness mutationBad
rs797045596Important
- -;GAAGTTCATCAAGGGGCarrier of a recessive deafness mutationBad
- AGTTCATCAAGGGGGA;AGTTCATCAAGGGGGAcommon in clinvarGood

Conditions and medicines

DeafnessCondition
Keratitis-ichthyosis-deafness syndromeCondition
Hearing lossCondition

Source and license

Adapted from GJB2 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.

GJB2 SNPs

Related

Conditions and medicines

Other SNPs

Source and license