TPRKB, TP53RK binding protein, 51002

N. diseases: 54; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553433412
rs1553433412 		1.000 2 73730594 missense variant A/G snv
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.800 1.000 1 2017 2017
dbSNP: rs1233885358
rs1233885358 		1.000 2 73730025 missense variant T/C snv 7.0E-06
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.800 0
dbSNP: rs2421556
rs2421556 		1.000 0.040 2 73733254 intron variant G/C;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2421556
rs2421556 		1.000 0.040 2 73733254 intron variant G/C;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2421556
rs2421556 		1.000 0.040 2 73733254 intron variant G/C;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019