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: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.730 0.750 3 2004 2019
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 0.667 3 2004 2019
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 1.000 3 2014 2015
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2006 2014
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2005 2014
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 1.000 2 2013 2015
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 1.000 2 2013 2015
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2012 2015
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2006 2014
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2013 2015
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2012 2015
dbSNP: rs34330
rs34330
CDKN1B ; GPR19
0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2008 2013
dbSNP: rs34330
rs34330
CDKN1B ; GPR19
0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2008 2013
dbSNP: rs121917832
rs121917832
CDKN1B ; GPR19
0.925 0.200 12 12718066 stop gained G/A snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 1.000 1 2015 2015
dbSNP: rs121917832
rs121917832
CDKN1B ; GPR19
0.925 0.200 12 12718066 stop gained G/A snv
CUI: C0206172
Disease: Diabetic Foot
Diabetic Foot 		0.010 1.000 1 2015 2015
dbSNP: rs142833529
rs142833529
CDKN1B ; GPR19
1.000 0.120 12 12718195 missense variant T/A;C;G snv 1.2E-05; 5.3E-04
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2012 2012
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C3160889
Disease: Node-negative breast cancer
Node-negative breast cancer 		0.010 1.000 1 2005 2005
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.010 1.000 1 2011 2011
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.010 1.000 1 2015 2015
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2010 2010
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		0.010 1.000 1 2014 2014
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma 		0.010 1.000 1 2014 2014