Source: CURATED

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: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 2 2016 2019
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 2 2016 2019
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 2 2016 2019
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2017 2017