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: rs10511544
rs10511544
PTPRD
9 10319881 intron variant A/C snv 0.32
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2016 2016
dbSNP: rs10756026
rs10756026
PTPRD
9 10337976 intron variant T/A snv 0.34
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2016 2016
dbSNP: rs10809070
rs10809070
PTPRD
9 10341235 intron variant C/G snv 0.30
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2016 2016
dbSNP: rs138915427
rs138915427
PTPRD
1.000 0.080 9 8341723 missense variant C/A;G;T snv 4.0E-06; 2.0E-05; 2.4E-05
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs2279776
rs2279776
PTPRD
1.000 0.120 9 8389364 synonymous variant C/G;T snv 0.50; 4.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs2475335
rs2475335
PTPRD
0.882 0.080 9 10260263 intron variant C/A;T snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2018 2018
dbSNP: rs2475335
rs2475335
PTPRD
0.882 0.080 9 10260263 intron variant C/A;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2018 2018
dbSNP: rs2475335
rs2475335
PTPRD
0.882 0.080 9 10260263 intron variant C/A;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs324498
rs324498
PTPRD
1.000 0.040 9 9059545 intron variant G/A snv 0.70
CUI: C0745130
Disease: Resistant hypertensive disorder
Resistant hypertensive disorder 		0.010 1.000 1 2019 2019
dbSNP: rs35929428
rs35929428
PTPRD
1.000 0.040 9 8485834 missense variant G/A;C snv 9.2E-02; 4.0E-06
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2018 2018
dbSNP: rs649891
rs649891
PTPRD
1.000 0.080 9 10430602 intron variant T/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2016 2016
dbSNP: rs749242026
rs749242026
PTPRD
0.882 0.080 9 8341203 missense variant G/T snv 8.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs749242026
rs749242026
PTPRD
0.882 0.080 9 8341203 missense variant G/T snv 8.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs749242026
rs749242026
PTPRD
0.882 0.080 9 8341203 missense variant G/T snv 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs17584499
rs17584499
PTPRD
0.925 0.080 9 8879118 intron variant C/T snv 0.14
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 1.000 2 2012 2013
dbSNP: rs17584499
rs17584499
PTPRD
0.925 0.080 9 8879118 intron variant C/T snv 0.14
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 1.000 2 2012 2013
dbSNP: rs10118330
rs10118330
PTPRD
1.000 0.040 9 9404090 intron variant A/G snv 3.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10119582
rs10119582
PTPRD
9 10060803 intron variant C/T snv 7.7E-02
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.700 1.000 1 2018 2018
dbSNP: rs10120450
rs10120450
PTPRD
9 8826588 intron variant T/C snv 0.58
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10120501
rs10120501
PTPRD
9 8826767 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10121203
rs10121203
PTPRD
9 8833227 intron variant A/C;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10122096
rs10122096
PTPRD
1.000 0.040 9 9405431 intron variant G/A snv 0.87
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10758996
rs10758996
PTPRD
9 8827077 intron variant T/G snv 0.58
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10759062
rs10759062
PTPRD
1.000 0.040 9 9404584 intron variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10759063
rs10759063
PTPRD
1.000 0.040 9 9404813 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017