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: rs139318648
rs139318648
1.000 12 89350881 missense variant G/A;C snv 6.1E-04; 8.0E-06
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
0.800 1.000 1 2013 2013
dbSNP: rs146089505
rs146089505
1.000 12 89349363 missense variant G/A snv 3.0E-04 1.9E-04
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
0.800 1.000 1 2013 2013
dbSNP: rs2279574
rs2279574
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs143946794
rs143946794
1.000 12 89350860 missense variant T/C snv 1.9E-04 1.7E-04
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
0.700 0
dbSNP: rs587776978
rs587776978
1.000 12 89351811 missense variant A/T snv
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
0.700 0
dbSNP: rs2279574
rs2279574
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 0.500 2 2017 2018
dbSNP: rs2279574
rs2279574
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2018 2018
dbSNP: rs2279574
rs2279574
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 1.000 1 2018 2018
dbSNP: rs2279574
rs2279574
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.010 1.000 1 2012 2012
dbSNP: rs2279574
rs2279574
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 < 0.001 1 2017 2017
dbSNP: rs2279574
rs2279574
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2018 2018
dbSNP: rs2279574
rs2279574
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2018 2018