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: rs12994401
rs12994401
LOC730100
0.925 0.040 2 51845108 intron variant C/T snv 0.18
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.040 1.000 4 2009 2015
dbSNP: rs10202118
rs10202118
LOC730100
1.000 0.040 2 51723186 intron variant C/T snv 0.67
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 1.000 2 2012 2015
dbSNP: rs1533428
rs1533428
LOC730100
1.000 0.040 2 51732120 intron variant T/A;C snv
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 1.000 2 2012 2013
dbSNP: rs1017418
rs1017418
LOC730100
1.000 0.080 2 51821024 intron variant G/A;C snv
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.010 1.000 1 2007 2007
dbSNP: rs11125375
rs11125375
LOC730100
1.000 0.040 2 51725011 intron variant G/A snv 0.61
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2012 2012
dbSNP: rs12994401
rs12994401
LOC730100
0.925 0.040 2 51845108 intron variant C/T snv 0.18
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 1.000 1 2011 2011
dbSNP: rs80350973
rs80350973
LOC730100
0.925 0.080 2 52252219 intron variant A/T snv 2.1E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 < 0.001 1 2017 2017
dbSNP: rs80350973
rs80350973
LOC730100
0.925 0.080 2 52252219 intron variant A/T snv 2.1E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 < 0.001 1 2017 2017