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: rs370640837
rs370640837
ABCA12
1.000 0.120 2 215019657 missense variant G/A;T snv 1.8E-04
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		0.700 0
dbSNP: rs763858530
rs763858530
ABCA12 ; SNHG31
1.000 0.080 2 214959024 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.700 1.000 5 2003 2012
dbSNP: rs121909182
rs121909182
ABCA3
1.000 0.040 16 2326027 missense variant A/G snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.800 1.000 1 2004 2004
dbSNP: rs121909183
rs121909183
ABCA3
1.000 0.040 16 2278348 missense variant A/G snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.800 1.000 1 2004 2004
dbSNP: rs121909184
rs121909184
ABCA3
1.000 0.040 16 2299442 missense variant T/C snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.800 1.000 1 2004 2004
dbSNP: rs28936691
rs28936691
ABCA3
1.000 0.040 16 2278016 missense variant T/G snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.800 1.000 1 2004 2004
dbSNP: rs61749446
rs61749446
ABCA4
1.000 1 94047010 missense variant G/A;C snv 8.0E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 20 1997 2014
dbSNP: rs61750120
rs61750120
ABCA4
0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs61750146
rs61750146
ABCA4
0.851 0.080 1 94029522 missense variant A/G snv 8.2E-06 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs61750641
rs61750641
ABCA4
0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs61750648
rs61750648
ABCA4
1.000 1 94001072 missense variant G/A snv 1.0E-04 3.3E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs61751374
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.820 1.000 20 1997 2019
dbSNP: rs61751392
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2019
dbSNP: rs61751403
rs61751403
ABCA4
0.925 0.080 1 94021339 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2019
dbSNP: rs61751408
rs61751408
ABCA4
0.851 0.080 1 94005509 missense variant G/A snv 2.0E-04 1.7E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs61753033
rs61753033
ABCA4
0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2014
dbSNP: rs76157638
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.830 1.000 20 1997 2019
dbSNP: rs121909205
rs121909205
ABCA4
1.000 1 94120994 missense variant G/A;T snv 1.6E-05; 3.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 19 1997 2017
dbSNP: rs121909207
rs121909207
ABCA4
1.000 1 94014665 missense variant G/A;C snv 1.1E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs150774447
rs150774447
ABCA4
1.000 1 94111579 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 19 1997 2017
dbSNP: rs201471607
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.810 1.000 19 1997 2019
dbSNP: rs201855602
rs201855602
ABCA4
1.000 1 94043470 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 19 1997 2014
dbSNP: rs281865397
rs281865397
ABCA4
1.000 1 94103015 missense variant C/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs281865400
rs281865400
ABCA4
1.000 1 94044743 missense variant A/C;G snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs281865402
rs281865402
ABCA4
1.000 1 94029446 missense variant T/C snv 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014