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: rs13266634
rs13266634
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
Diabetes Mellitus, Non-Insulin-Dependent
1.000 0.973 18 2007 2019
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 13 2005 2019
dbSNP: rs4402960
rs4402960
0.724 0.400 3 185793899 intron variant G/T snv 0.38
Diabetes Mellitus, Non-Insulin-Dependent
1.000 0.977 12 2007 2018
dbSNP: rs2066845
rs2066845
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 0.949 10 2001 2019
dbSNP: rs2066844
rs2066844
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 0.940 9 2001 2018
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 7 2004 2020
dbSNP: rs28942074
rs28942074
0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 0.984 51 1995 2020
dbSNP: rs28934906
rs28934906
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.900 1.000 49 1999 2017
dbSNP: rs77931234
rs77931234
0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03
Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.900 1.000 46 1990 2020
dbSNP: rs78655421
rs78655421
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 0.985 45 1992 2019
dbSNP: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.900 0.989 44 1984 2019
dbSNP: rs80034486
rs80034486
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 0.966 44 1990 2019
dbSNP: rs76151636
rs76151636
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 1.000 39 1993 2019
dbSNP: rs121912664
rs121912664
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.900 0.977 32 1990 2020
dbSNP: rs63750264
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 1.000 32 1991 2019
dbSNP: rs75527207
rs75527207
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 0.980 32 1990 2020
dbSNP: rs7903146
rs7903146
0.554 0.680 10 112998590 intron variant C/G;T snv
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.953 32 2006 2020
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 30 1996 2019
dbSNP: rs63750756
rs63750756
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.900 1.000 29 1998 2019
dbSNP: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
Multiple Endocrine Neoplasia Type 2a
0.900 0.974 29 1993 2018
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.900 1.000 26 2005 2018
dbSNP: rs5030858
rs5030858
PAH
0.882 0.160 12 102840493 missense variant G/A snv 7.6E-04 9.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.900 1.000 26 1987 2019
dbSNP: rs28940578
rs28940578
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 1.000 25 1997 2017
dbSNP: rs121912438
rs121912438
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 1.000 23 1993 2016
dbSNP: rs28940579
rs28940579
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 1.000 22 1997 2019