TPRKB, TP53RK binding protein, 51002

N. diseases: 54; N. variants: 3
Disease: GALLOWAY-MOWAT SYNDROME 5 ×
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