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: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
Diabetes Mellitus, Insulin-Dependent
1.000 0.950 0 2004 2020
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 0.877 0 2005 2019
dbSNP: rs121909211
rs121909211
0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.900 1.000 0 1998 2019
dbSNP: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 0.976 0 1996 2019
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 0.972 0 2004 2019
dbSNP: rs104895462
rs104895462
0.882 0.120 16 50710911 missense variant C/T snv
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.880 1.000 0 2001 2015
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 1.000 0 2011 2019
dbSNP: rs78655421
rs78655421
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
Congenital bilateral aplasia of vas deferens
0.880 1.000 0 1993 2014
dbSNP: rs5030764
rs5030764
GP9
0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.870 1.000 0 1993 2019
dbSNP: rs59616921
rs59616921
0.807 0.120 17 41571506 missense variant G/A snv
Keratoderma, Palmoplantar, Epidermolytic
0.860 1.000 0 2003 2016
dbSNP: rs104895097
rs104895097
0.925 0.040 16 3243205 missense variant C/T snv 2.0E-04 1.1E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.850 1.000 0 1998 2020
dbSNP: rs268
rs268
LPL
0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.850 0.800 0 1995 2009
dbSNP: rs371769427
rs371769427
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.850 1.000 0 2013 2019
dbSNP: rs421016
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.850 1.000 0 2011 2019
dbSNP: rs104895461
rs104895461
0.882 0.120 16 50710912 missense variant G/A;C snv
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.840 1.000 0 2004 2016
dbSNP: rs121909209
rs121909209
0.763 0.160 5 136056781 missense variant G/A snv
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
Thiel-Behnke corneal dystrophy
0.840 1.000 0 2007 2012
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.840 1.000 0 2006 2011
dbSNP: rs118204456
rs118204456
0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III
0.830 1.000 0 2009 2018
dbSNP: rs1800553
rs1800553
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.830 1.000 0 1997 2019
dbSNP: rs56707768
rs56707768
0.882 0.120 17 41571511 missense variant T/A;C snv
Keratoderma, Palmoplantar, Epidermolytic
0.830 1.000 0 2002 2008
dbSNP: rs57920071
rs57920071
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
Familial Partial Lipodystrophy, Type 2
0.830 1.000 0 2014 2018
dbSNP: rs63751165
rs63751165
0.925 0.120 17 46010401 missense variant G/A;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.830 1.000 0 1999 2005
dbSNP: rs75030001
rs75030001
RET
0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05
Familial medullary thyroid carcinoma
0.830 1.000 0 2012 2018
dbSNP: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.830 0.667 0 2010 2015
dbSNP: rs863224946
rs863224946
0.925 0.040 5 150125501 missense variant G/C snv
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome
0.830 1.000 0 2017 2019