GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Mutilating keratoderma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894403
rs104894403 		0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.830 1.000 6 1999 2010
dbSNP: rs80338939
rs80338939 		0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 1997 2007
dbSNP: rs80338942
rs80338942 		0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs104894396
rs104894396 		0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894398
rs104894398 		0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894408
rs104894408 		0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894413
rs104894413 		0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033293
rs111033293 		0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033294
rs111033294 		0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033299
rs111033299 		0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs371024165
rs371024165 		0.763 0.400 13 20189488 missense variant G/A;T snv 3.2E-05; 8.0E-06
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs72474224
rs72474224 		0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs727503066
rs727503066 		0.776 0.280 13 20189203 missense variant G/A;C snv
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs76434661
rs76434661 		0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs774518779
rs774518779 		0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338940
rs80338940 		0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338944
rs80338944 		0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338945
rs80338945 		0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338948
rs80338948 		0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338950
rs80338950 		0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs886037849
rs886037849 		1.000 0.240 13 20189389 missense variant A/G snv
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894410
rs104894410 		0.807 0.320 13 20189407 missense variant C/G;T snv
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2006 2019
dbSNP: rs121912968
rs121912968 		0.827 0.280 13 20189364 missense variant T/C snv
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008