PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 22
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22 ×
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: rs1172015222
rs1172015222 		1.000 2 44328936 splice donor variant C/T snv 7.0E-06
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 1.000 1 2014 2014
dbSNP: rs753545038
rs753545038 		1.000 2 44346392 splice acceptor variant T/A;C snv 3.3E-05; 1.2E-05
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 1.000 1 2014 2014
dbSNP: rs758019788
rs758019788 		1.000 2 44338350 splice donor variant C/T snv 3.2E-05
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 1.000 1 2014 2014
dbSNP: rs775517492
rs775517492 		1.000 2 44343927 frameshift variant A/- delins 6.0E-05 7.0E-06
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 1.000 1 2014 2014
dbSNP: rs1057523690
rs1057523690 		1.000 2 44339309 frameshift variant A/- delins
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 0
dbSNP: rs1361739547
rs1361739547 		1.000 2 44342475 stop gained G/A;C snv 1.2E-05; 4.0E-06
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 0
dbSNP: rs1436090495
rs1436090495 		1.000 2 44344565 frameshift variant CAAA/- delins 4.0E-06
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 0
dbSNP: rs145356495
rs145356495 		1.000 2 44339233 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 0
dbSNP: rs1553352792
rs1553352792 		1.000 2 44326854 stop gained A/C snv
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.700 0