PLCE1, phospholipase C epsilon 1, 51196

N. diseases: 114; N. variants: 57
Disease: NEPHROTIC SYNDROME, TYPE 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: rs121912605
rs121912605 		1.000 0.080 10 94270547 missense variant C/T snv 4.0E-06
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2006 2006
dbSNP: rs121912601
rs121912601 		1.000 0.080 10 94132444 stop gained C/T snv 1.2E-05
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121912602
rs121912602 		1.000 0.080 10 94254256 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121912603
rs121912603 		1.000 0.080 10 94283840 stop gained C/T snv
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121912604
rs121912604 		1.000 0.080 10 94304583 stop gained C/T snv
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267606953
rs267606953 		1.000 0.080 10 94322006 stop gained C/T snv 4.0E-06
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267606954
rs267606954 		1.000 0.080 10 94032007 stop gained C/T snv 2.4E-05
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267606955
rs267606955 		1.000 0.080 10 94259072 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs876657369
rs876657369 		1.000 0.080 10 94032192 frameshift variant G/- del
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs876657370
rs876657370 		1.000 0.080 10 94262522 frameshift variant G/- delins
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0