Source: BEFREE

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: rs1178625972
rs1178625972
1.000 0.080 22 39966117 missense variant C/G snv 2.4E-05 1.4E-05
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.010 1.000 1 2006 2006
dbSNP: rs138281457
rs138281457
22 39955861 missense variant A/G snv 4.0E-06 3.5E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2015 2015
dbSNP: rs140074469
rs140074469
1.000 0.160 22 39966148 missense variant G/A snv 7.2E-05 3.4E-04
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.010 1.000 1 2005 2005
dbSNP: rs1456532185
rs1456532185
1.000 0.120 22 39968182 missense variant C/A snv 4.1E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 1.000 1 2011 2011
dbSNP: rs544908309
rs544908309
1.000 0.080 22 39970908 missense variant G/A snv 4.1E-06
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
0.010 1.000 1 2013 2013
dbSNP: rs769370836
rs769370836
1.000 0.040 22 39968202 missense variant A/G snv 6.8E-05 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2013 2013
dbSNP: rs769370836
rs769370836
1.000 0.040 22 39968202 missense variant A/G snv 6.8E-05 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 1.000 1 2013 2013
dbSNP: rs771799019
rs771799019
22 39969528 missense variant G/T snv 8.0E-06 7.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2008 2008
dbSNP: rs865901367
rs865901367
1.000 0.040 22 39968124 missense variant C/T snv 2.1E-05
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 1.000 1 2016 2016