Source: CLINVAR

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: rs1057519879
rs1057519879
B2M ; PATL2
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1351320025
rs1351320025
PATL2
1.000 15 44669869 stop gained G/A snv
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.700 1.000 1 2017 2017
dbSNP: rs548527219
rs548527219
PATL2
1.000 15 44672425 stop gained G/A snv 3.2E-05 2.8E-05
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.700 1.000 1 2017 2017
dbSNP: rs752734259
rs752734259
PATL2
1.000 15 44672114 stop gained A/G;T snv 6.5E-06 7.0E-06
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.700 1.000 1 2017 2017
dbSNP: rs1555385717
rs1555385717
PATL2
1.000 15 44668978 splice donor variant A/G snv
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.700 0
dbSNP: rs863225287
rs863225287
B2M ; PATL2
1.000 0.080 15 44711614 splice donor variant G/T snv
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		0.700 0