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: 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: 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: 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: 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: 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: 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: rs1057518872
rs1057518872
GJA1
0.882 0.160 6 121447287 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		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: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
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: 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: 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: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C1837770
Disease: Sparse hair
Sparse hair 		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: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		0.700 0
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: rs121912970
rs121912970
GJA1
0.925 0.160 6 121446944 stop gained C/T snv
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.700 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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