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: 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: 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: rs1554200995
rs1554200995
GJA1
1.000 0.160 6 121446987 missense variant A/T snv
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.700 0
dbSNP: rs1554201017
rs1554201017
GJA1
0.925 0.160 6 121447236 missense variant T/C snv
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.700 0
dbSNP: rs1554201019
rs1554201019
GJA1
1.000 0.160 6 121447260 missense variant G/A snv
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.700 0
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: rs267606844
rs267606844
GJA1
0.882 0.160 6 121447074 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.700 0
dbSNP: rs387906616
rs387906616
GJA1
1.000 0.160 6 121446878 missense variant C/T 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
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: 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: 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