CD2AP, CD2 associated protein, 23607

N. diseases: 113; N. variants: 14
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 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: rs1554181304
rs1554181304 		1.000 6 47576523 splice acceptor variant GC/CT mnv
CUI: C4016880
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 		0.700 0
dbSNP: rs267606710
rs267606710 		1.000 6 47612492 stop gained C/A;T snv 2.0E-05; 2.0E-05
CUI: C4016880
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 		0.700 0