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: 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: 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
dbSNP: rs10815964
rs10815964
PTPRD
9 8826108 intron variant G/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
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: rs1414557
rs1414557
PTPRD
1.000 0.040 9 10471937 intron variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs147345944
rs147345944
PTPRD
9 9479463 intron variant T/C;G snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs147345944
rs147345944
PTPRD
9 9479463 intron variant T/C;G snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs1836229
rs1836229
PTPRD
1.000 0.080 9 8820573 intron variant A/C;G;T snv
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs193407
rs193407
PTPRD
9 9059924 intron variant C/A;G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs201899638
rs201899638
PTPRD
9 9932324 intron variant T/C;G snv
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.700 1.000 1 2019 2019
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: rs2784598
rs2784598
PTPRD
0.925 0.040 9 10512307 intron variant T/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs2784598
rs2784598
PTPRD
0.925 0.040 9 10512307 intron variant T/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs35041767
rs35041767
PTPRD
1.000 0.080 9 9261737 intron variant -/C ins
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		0.700 1.000 1 2008 2008
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: rs72700966
rs72700966
PTPRD
1.000 0.040 9 10505224 intron variant C/G;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2014 2014
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