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: rs2066844
rs2066844
0.638 0.500 16 50712015 missense variant C/T snp 2.6E-02 2.4E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 0.894 0 2002 2017
dbSNP: rs2066845
rs2066845
0.662 0.429 16 50722629 missense variant G/C,T snp 1.1E-02; 2.2E-04 7.8E-03; 3.2E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 0.933 0 2002 2017
dbSNP: rs2476601
rs2476601
0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 0.877 0 2004 2017
dbSNP: rs2476601
rs2476601
0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92
Diabetes Mellitus, Insulin-Dependent
1.000 0.935 0 2005 2017
dbSNP: rs76151636
rs76151636
0.878 0.179 13 51944145 missense variant G/A,T snp 4.0E-06; 9.2E-04 1.8E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 0.923 20 1993 2017
dbSNP: rs137852642
rs137852642
0.821 0.179 19 15192242 missense variant G/A,T snp 4.5E-06; 4.5E-06
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.900 1.000 11 1997 2016
dbSNP: rs75391579
rs75391579
0.801 0.250 9 34648170 missense variant A/G snp 1.4E-03 1.7E-03
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.900 1.000 11 1991 2017
dbSNP: rs137852578
rs137852578
AR
0.878 0.071 X 67723710 missense variant A/G snp
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.900 0.917 10 1991 2015
dbSNP: rs63750264
rs63750264
APP
0.707 0.321 21 25891784 missense variant C/A,G,T snp
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 1.000 10 1991 2016
dbSNP: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.900 0.880 8 2002 2016
dbSNP: rs75527207
rs75527207
0.821 0.107 7 117587806 missense variant G/A snp 1.8E-04 2.2E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 0.950 8 1990 2018
dbSNP: rs121909210
rs121909210
0.734 0.143 5 136046406 missense variant C/A,T snp 4.0E-06; 4.0E-06 3.2E-05
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I
0.900 0.917 7 1997 2016
dbSNP: rs121909211
rs121909211
0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.900 1.000 6 1997 2016
dbSNP: rs267606982
rs267606982
0.769 0.071 7 142751938 missense variant GC/AT multinucleotide-polymorphism
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.900 1.000 5 1996 2012
dbSNP: rs63750756
rs63750756
0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.900 1.000 5 1992 2016
dbSNP: rs63751273
rs63751273
0.692 0.250 17 46010389 missense variant C/T snp
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.900 1.000 5 1998 2018
dbSNP: rs77543610
rs77543610
0.724 0.071 10 121520160 missense variant G/C snp
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 1.000 5 1995 2015
dbSNP: rs4647924
rs4647924
0.715 0.179 4 1801844 missense variant C/A,G,T snp 4.2E-06; 4.2E-06 3.2E-05; 3.2E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
0.900 1.000 4 1996 2015
dbSNP: rs28933385
rs28933385
0.707 0.286 20 4699818 missense variant G/A snp 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 0.964 3 1989 2016
dbSNP: rs104894229
rs104894229
0.634 0.500 11 534289 missense variant C/A,G,T snp
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.900 1.000 2 2005 2017
dbSNP: rs121912678
rs121912678
1.000 0.036 2 157774114 missense variant C/G,T snp
Fibrodysplasia Ossificans Progressiva
0.900 1.000 2 1972 2016
dbSNP: rs78655421
rs78655421
0.801 0.214 7 117530975 stop gained G/A,C,T snp 1.5E-03; 1.2E-05 1.1E-03; 3.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 0.882 2 1990 2017
dbSNP: rs28933068
rs28933068
0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.900 0.952 1 1973 2016
dbSNP: rs61752717
rs61752717
0.667 0.607 16 3243407 missense variant T/A,C snp 2.8E-04 1.9E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 0.929 1 1993 2017
dbSNP: rs118192172
rs118192172
0.784 0.107 19 38457545 missense variant C/T snp 8.7E-05 2.6E-04
Malignant hyperpyrexia due to anesthesia
0.900 1.000 0 1992 2014