Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893961
rs104893961
GJA1
1.000 0.160 6 121446897 missense variant A/C snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.810 1.000 1 2005 2006
dbSNP: rs1554200992
rs1554200992
GJA1
0.925 0.160 6 121446966 missense variant C/T snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.810 1.000 1 2006 2019
dbSNP: rs1554201043
rs1554201043
GJA1
1.000 0.160 6 121447493 missense variant G/T snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.810 1.000 1 2006 2015
dbSNP: rs267606845
rs267606845
GJA1
1.000 0.160 6 121447073 missense variant C/A snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.810 1.000 1 2004 2006
dbSNP: rs104893962
rs104893962
GJA1
1.000 0.160 6 121446899 missense variant T/C snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.800 1.000 1 2006 2006
dbSNP: rs104893963
rs104893963
GJA1
1.000 0.160 6 121446908 missense variant G/A snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.800 1.000 1 2006 2006
dbSNP: rs104893966
rs104893966
GJA1
0.925 0.160 6 121447428 missense variant A/C snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.800 1.000 1 2006 2006
dbSNP: rs121912969
rs121912969
GJA1
1.000 0.160 6 121446879 missense variant T/C snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.800 1.000 1 2006 2006
dbSNP: rs28931600
rs28931600
GJA1
1.000 0.080 6 121447274 missense variant G/A snv
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.800 1.000 1 2004 2004
dbSNP: rs28931601
rs28931601
GJA1
1.000 0.160 6 121447133 missense variant G/A snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.800 1.000 1 2006 2006
dbSNP: rs397518464
rs397518464
GJA1
1.000 0.160 6 121447464 missense variant A/G snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.800 1.000 1 2006 2006
dbSNP: rs764670582
rs764670582
GJA1
0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05
CUI: C2931244
Disease: Craniometaphyseal dysplasia, autosomal recessive type
Craniometaphyseal dysplasia, autosomal recessive type 		0.800 1.000 1 2013 2013
dbSNP: rs864309644
rs864309644
GJA1
1.000 6 121446870 missense variant G/T snv
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.800 1.000 1 2015 2015
dbSNP: rs2227885
rs2227885
GJA1
0.925 0.080 6 121447932 missense variant G/A snv 4.2E-04 1.3E-04
CUI: C3275750
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 3
ATRIOVENTRICULAR SEPTAL DEFECT 3 		0.800 0
dbSNP: rs2227885
rs2227885
GJA1
0.925 0.080 6 121447932 missense variant G/A snv 4.2E-04 1.3E-04
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		0.800 0
dbSNP: rs794729675
rs794729675
GJA1
1.000 6 121446978 missense variant C/T snv
CUI: C4479619
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 		0.800 0
dbSNP: rs962041031
rs962041031
GJA1
1.000 0.160 6 121447290 missense variant G/A snv 7.0E-06
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.800 0
dbSNP: rs104893964
rs104893964
GJA1
1.000 0.160 6 121446912 missense variant G/A snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs104893965
rs104893965
GJA1
0.925 0.080 6 121447974 missense variant G/A snv 2.0E-04 1.8E-04
CUI: C3275750
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 3
ATRIOVENTRICULAR SEPTAL DEFECT 3 		0.700 1.000 1 2001 2001
dbSNP: rs104893965
rs104893965
GJA1
0.925 0.080 6 121447974 missense variant G/A snv 2.0E-04 1.8E-04
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		0.700 1.000 1 2001 2001
dbSNP: rs1554201011
rs1554201011
GJA1
1.000 0.160 6 121447153 missense variant G/C snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs1554201017
rs1554201017
GJA1
0.925 0.160 6 121447236 missense variant T/C snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs267606844
rs267606844
GJA1
0.882 0.160 6 121447074 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0018522
Disease: Hallermann's Syndrome
Hallermann's Syndrome 		0.700 1.000 1 2004 2004
dbSNP: rs1057518872
rs1057518872
GJA1
0.882 0.160 6 121447287 missense variant T/C snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.700 0
dbSNP: rs750294638
rs750294638
GJA1
1.000 0.160 6 121447452 missense variant G/A snv
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.700 0