SGPL1, sphingosine-1-phosphate lyase 1, 8879

N. diseases: 85; N. variants: 13
Disease: NEPHROTIC SYNDROME, TYPE 14 ×
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: rs769259446
rs769259446 		1.000 10 70868394 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.800 1.000 4 2017 2018
dbSNP: rs1131692255
rs1131692255 		1.000 10 70868393 missense variant C/T snv 4.0E-06
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.800 0
dbSNP: rs1131692235
rs1131692235 		1.000 10 70871858 frameshift variant C/- delins
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0
dbSNP: rs1131692252
rs1131692252 		1.000 10 70877259 inframe deletion CTT/- delins
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0
dbSNP: rs1131692253
rs1131692253 		1.000 10 70851211 splice donor variant G/A snv
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0
dbSNP: rs1131692254
rs1131692254 		1.000 10 70816859 frameshift variant -/A delins
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0
dbSNP: rs1131692256
rs1131692256 		1.000 10 70871964 missense variant G/T snv
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0
dbSNP: rs1437439236
rs1437439236 		0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0
dbSNP: rs1564622701
rs1564622701 		1.000 10 70844532 frameshift variant T/- del
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0
dbSNP: rs746887949
rs746887949 		1.000 10 70876608 stop gained C/G;T snv 8.0E-06
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0
dbSNP: rs779485098
rs779485098 		1.000 10 70873538 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.700 0