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: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.979 477 2002 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 0.947 475 2003 2020
dbSNP: rs121912438
rs121912438
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 0.995 416 1996 2020
dbSNP: rs121434569
rs121434569
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.100 0.980 406 2005 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 0.959 387 2003 2019
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 0.960 274 2005 2019
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 0.974 269 2005 2020
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 0.970 263 2005 2019
dbSNP: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.800 0.973 260 1997 2019
dbSNP: rs34637584
rs34637584
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 0.996 260 2005 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 0.976 248 1996 2019
dbSNP: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 0.974 230 1997 2019
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 0.982 222 2005 2020
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 0.936 218 2005 2019
dbSNP: rs12979860
rs12979860
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 0.969 196 2009 2019
dbSNP: rs7903146
rs7903146
0.554 0.680 10 112998590 intron variant C/G;T snv
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.953 190 2006 2020
dbSNP: rs121434568
rs121434568
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 0.983 176 2004 2020
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 0.966 175 2005 2020
dbSNP: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 0.946 167 1997 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 0.975 160 2004 2020
dbSNP: rs1217691063
rs1217691063
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 0.936 156 1996 2019
dbSNP: rs104893877
rs104893877
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 0.980 153 1997 2020
dbSNP: rs9939609
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41
CUI: C0028754
Disease: Obesity
Obesity
0.800 0.947 151 2007 2020
dbSNP: rs121434569
rs121434569
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 0.987 150 2005 2020
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.900 0.953 149 2009 2020