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: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.010 1.000 1 2004 2004
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.040 1.000 4 2005 2018
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.010 1.000 1 2005 2005
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
0.010 1.000 1 2006 2006
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0027697
Disease: Nephritis
Nephritis
0.010 1.000 1 2006 2006
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 1.000 3 2007 2017
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2007 2017
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2007 2007
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.030 1.000 3 2008 2012
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.030 1.000 3 2008 2012
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007971
Disease: Cheilitis
Cheilitis
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
Squamous cell carcinoma of esophagus
0.010 1.000 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
Polycystic Kidney, Autosomal Dominant
0.010 1.000 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.030 1.000 3 2009 2017
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.010 1.000 1 2009 2009
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 1.000 1 2009 2009
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 0.500 2 2010 2013
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.020 0.500 2 2010 2017
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2010 2010
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.010 < 0.001 1 2010 2010
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
0.010 1.000 1 2010 2010