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: rs1515022
rs1515022
1.000 0.040 17 78509826 intron variant T/C snv 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs2120660
rs2120660
1.000 0.040 17 78508430 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs2120661
rs2120661
1.000 0.040 17 78508455 intron variant T/C snv 0.63
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs2271613
rs2271613
17 78427016 synonymous variant G/A snv 0.74 0.65
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs55888180
rs55888180
1.000 0.080 17 78447415 intron variant G/C snv 7.8E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.700 1.000 1 2018 2018
dbSNP: rs55888180
rs55888180
1.000 0.080 17 78447415 intron variant G/C snv 7.8E-02
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.700 1.000 1 2018 2018
dbSNP: rs626439
rs626439
1.000 0.040 17 78507542 synonymous variant C/T snv 0.30 0.24
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs6501225
rs6501225
1.000 0.040 17 78506533 intron variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs72925845
rs72925845
17 78443279 intron variant G/A snv 8.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2014 2014
dbSNP: rs9902160
rs9902160
1.000 0.040 17 78508249 intron variant G/A snv 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs763505389
rs763505389
17 78491549 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs768564744
rs768564744
17 78525107 missense variant C/G;T snv 4.0E-06; 4.0E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0