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: rs448012
rs448012
0.925 0.120 5 180619344 missense variant G/C snv 0.63 0.61
Conventional (Clear Cell) Renal Cell Carcinoma
0.020 1.000 2 2014 2017
dbSNP: rs10085109
rs10085109
0.925 0.080 5 180633804 intron variant G/C;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 1.000 1 2013 2013
dbSNP: rs10085109
rs10085109
0.925 0.080 5 180633804 intron variant G/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.010 1.000 1 2013 2013
dbSNP: rs1374141592
rs1374141592
1.000 0.040 5 180630561 missense variant C/T snv 7.0E-06
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
0.010 1.000 1 2016 2016
dbSNP: rs34255532
rs34255532
0.925 0.080 5 180618911 missense variant G/A;C snv 3.5E-03; 5.2E-06
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.010 1.000 1 2002 2002
dbSNP: rs448012
rs448012
0.925 0.120 5 180619344 missense variant G/C snv 0.63 0.61
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs762560832
rs762560832
5 180620995 missense variant G/A snv 2.8E-05 4.9E-05
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities
0.010 1.000 1 2012 2012