Source: ALL

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: rs28934906
rs28934906
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.900 1.000 58 1999 2017
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 58 1991 2019
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 58 1990 2020
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 56 1993 2019
dbSNP: rs6983267
rs6983267
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 0.945 55 2007 2019
dbSNP: rs28931614
rs28931614
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 0.981 53 1994 2020
dbSNP: rs34778348
rs34778348
0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 0.925 53 2006 2019
dbSNP: rs75932628
rs75932628
0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 0.923 52 2013 2020
dbSNP: rs2241880
rs2241880
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 0.961 51 2007 2020
dbSNP: rs800292
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 0.980 51 2005 2019
dbSNP: rs9939609
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.961 51 2007 2019
dbSNP: rs11200638
rs11200638
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 0.900 50 2006 2019
dbSNP: rs74315401
rs74315401
0.683 0.320 20 4699525 missense variant C/T snv
Gerstmann-Straussler-Scheinker Disease
0.900 0.979 47 1989 2019
dbSNP: rs10811661
rs10811661
0.724 0.400 9 22134095 intergenic variant T/C snv 0.14
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.955 44 2007 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 44 1990 2020
dbSNP: rs28933385
rs28933385
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 1.000 44 1990 2019
dbSNP: rs3825942
rs3825942
0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
0.900 0.955 44 2007 2019
dbSNP: rs3803662
rs3803662
0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 0.953 43 2007 2019
dbSNP: rs17782313
rs17782313
0.683 0.480 18 60183864 intergenic variant T/C snv 0.24
CUI: C0028754
Disease: Obesity
Obesity
0.900 0.905 42 2008 2019
dbSNP: rs12979860
rs12979860
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
0.900 1.000 41 2009 2020
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 39 1993 2016
dbSNP: rs121912678
rs121912678
0.851 0.080 2 157774114 missense variant C/G;T snv
Fibrodysplasia Ossificans Progressiva
0.900 1.000 39 2006 2020
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 39 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 39 1993 2018
dbSNP: rs74799832
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
Multiple Endocrine Neoplasia Type 2b
0.900 0.974 38 1994 2019