Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606840
rs267606840 		1.000 9 98845990 missense variant C/A;T snv 4.0E-06
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.800 1.000 3 2009 2014
dbSNP: rs145236923
rs145236923 		0.851 0.120 9 98831947 missense variant G/A snv 1.2E-03 1.3E-03
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 3 2009 2014
dbSNP: rs149726976
rs149726976 		0.882 0.120 9 98831929 missense variant C/T snv 2.7E-04 4.5E-04
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 3 2009 2014
dbSNP: rs868590153
rs868590153 		1.000 9 98837081 missense variant G/A;C;T snv 2.4E-05
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 3 2009 2014
dbSNP: rs2295924
rs2295924 		1.000 0.040 9 98823549 intron variant C/T snv 0.54
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1272530441
rs1272530441 		1.000 9 98837123 missense variant A/G snv 7.0E-06
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs920049418
rs920049418 		1.000 9 98837054 missense variant G/A snv 4.2E-05
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs145236923
rs145236923 		0.851 0.120 9 98831947 missense variant G/A snv 1.2E-03 1.3E-03
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2017 2017
dbSNP: rs145236923
rs145236923 		0.851 0.120 9 98831947 missense variant G/A snv 1.2E-03 1.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs145236923
rs145236923 		0.851 0.120 9 98831947 missense variant G/A snv 1.2E-03 1.3E-03
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs149726976
rs149726976 		0.882 0.120 9 98831929 missense variant C/T snv 2.7E-04 4.5E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs149726976
rs149726976 		0.882 0.120 9 98831929 missense variant C/T snv 2.7E-04 4.5E-04
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014