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: 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
dbSNP: rs1554201018
rs1554201018
GJA1
1.000 0.160 6 121447259 missense variant G/A snv
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.700 1.000 6 2007 2016
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
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: 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: 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: 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: rs3792943
rs3792943
GJA1
6 121437366 intron variant C/T snv 0.51
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
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: rs57347370
rs57347370
GJA1
6 121440942 intron variant G/T snv 0.25
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.700 1.000 1 2019 2019
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: 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