PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 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: rs121912693
rs121912693 		1.000 0.120 2 44320614 missense variant T/C snv
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1994 2012
dbSNP: rs121912695
rs121912695 		1.000 0.120 2 44320536 missense variant C/G;T snv 1.2E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1994 2012
dbSNP: rs121912696
rs121912696 		1.000 0.120 2 44320424 missense variant C/A;T snv 1.6E-05; 4.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1994 2012
dbSNP: rs141944551
rs141944551 		1.000 0.120 2 44320380 missense variant G/A snv 8.0E-05 9.1E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs146963107
rs146963107 		1.000 0.120 2 44320377 missense variant T/C snv 4.8E-05 4.2E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs368796166
rs368796166 		1.000 0.120 2 44320221 stop gained C/A;G;T snv 2.0E-05; 3.6E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs776729515
rs776729515 		1.000 0.120 2 44320325 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs775827496
rs775827496 		1.000 0.120 2 44320330 frameshift variant A/- delins 2.4E-05 4.2E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 1995 2017
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: rs1279289214
rs1279289214 		1.000 0.120 2 44320524 missense variant T/C snv 4.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 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
dbSNP: rs1558502635
rs1558502635 		1.000 0.040 2 44339161 frameshift variant GTTCTCCAACATTAGTGAGAATGTATAATTCATCATCTCTGTGTTCAACATAGTAAAGGACCCCATGTATTCGCT/TAAAA delins
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs376639206
rs376639206 		1.000 0.120 2 44320283 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs756823144
rs756823144 		1.000 0.120 2 44320598 missense variant T/C snv 1.2E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs759696513
rs759696513 		1.000 0.120 2 44320332 missense variant G/C snv 8.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0