Source: CLINVAR

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
0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 0.877 19 2004 2017
dbSNP: rs35705950
rs35705950
0.821 0.071 11 1219991 regulatory region variant G/A,T snp 2.6E-04; 7.7E-02
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
1.000 1.000 6 2011 2018
dbSNP: rs4402960
rs4402960
0.756 0.286 3 185793899 intron variant G/T snp 0.38
Diabetes Mellitus, Non-Insulin-Dependent
1.000 0.963 3 2007 2015
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 44 1990 2017
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 26 2005 2017
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 26 1990 2018
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 22 1993 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: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
Multiple Endocrine Neoplasia Type 2b
0.900 1.000 19 1988 2016
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 18 1989 2016
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 18 1996 2015
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 15 1991 2017
dbSNP: rs28931614
rs28931614
0.744 0.179 4 1804392 missense variant G/A,C snp
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 0.955 14 1994 2018
dbSNP: rs28940578
rs28940578
0.801 0.214 16 3243405 missense variant C/T snp 1.4E-04 3.2E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 1.000 14 1993 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 13 1973 2016
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 0.947 11 2005 2016
dbSNP: rs121912678
rs121912678
1.000 0.036 2 157774114 missense variant C/G,T snp
Fibrodysplasia Ossificans Progressiva
0.900 1.000 9 1972 2016
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 8 1992 2016
dbSNP: rs74315401
rs74315401
0.734 0.143 20 4699525 missense variant C/T snp
Gerstmann-Straussler-Scheinker Disease
0.900 0.964 8 1989 2017
dbSNP: rs79184941
rs79184941
0.638 0.321 10 121520163 missense variant G/A,C snp 5.6E-05; 4.0E-06 3.2E-05
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 1.000 7 1995 2016
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 6 1992 2014
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 6 1991 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 6 1998 2018
dbSNP: rs12255372
rs12255372
0.679 0.357 10 113049143 intron variant G/A,T snp 0.24
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.894 4 2006 2017
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 4 1995 2015