Source: CURATED

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: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		0.700 0
dbSNP: rs1057518872
rs1057518872
GJA1
0.882 0.160 6 121447287 missense variant T/C snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
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: 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: rs1057518872
rs1057518872
GJA1
0.882 0.160 6 121447287 missense variant T/C snv
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		0.700 0
dbSNP: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 0
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: rs1057518872
rs1057518872
GJA1
0.882 0.160 6 121447287 missense variant T/C snv
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		0.700 0
dbSNP: rs1554200990
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2003 2017
dbSNP: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C2919341
Disease: Edema of dorsum of foot
Edema of dorsum of foot 		0.700 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: rs875989815
rs875989815
GJA1
1.000 6 121447528 missense variant A/T snv
CUI: C4479619
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 		0.700 0
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: 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: 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: rs1554200990
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 12 2003 2017
dbSNP: rs1554200990
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 2003 2017
dbSNP: rs1554200990
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 2003 2017
dbSNP: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		0.700 0
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: 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: 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: 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