LIFR, LIF receptor subunit alpha, 3977

N. diseases: 198; N. variants: 14
Disease: Cakut ×
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: rs1114167358
rs1114167358 		1.000 0.120 5 38505920 frameshift variant CTAA/- delins
CUI: C1968949
Disease: Cakut
Cakut 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3729751
rs3729751 		1.000 0.120 5 38481601 missense variant G/A;T snv 1.1E-03; 1.5E-03
CUI: C1968949
Disease: Cakut
Cakut 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs79040751
rs79040751 		1.000 0.120 5 38493734 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 2.1E-03
CUI: C1968949
Disease: Cakut
Cakut 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017