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: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 0.946 465 2003 2020
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.981 464 2002 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: 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: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 0.956 367 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: 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: 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: rs1057519847
rs1057519847
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 0.983 176 2004 2020
dbSNP: rs1057519848
rs1057519848
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 0.983 176 2004 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: 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: 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: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 0.973 149 2004 2020
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 0.943 105 2001 2020
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
Diabetes Mellitus, Non-Insulin-Dependent
0.100 0.893 103 1997 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 0.980 98 2004 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 0.990 98 2002 2020
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 0.979 96 2004 2019
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 0.989 95 2002 2020