LPIN1, lipin 1, 23175

N. diseases: 86; N. variants: 12
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive ×
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: rs119480071
rs119480071 		1.000 0.040 2 11773666 stop gained G/T snv
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		Musculoskeletal Diseases 0.700 0
dbSNP: rs119480072
rs119480072 		1.000 0.040 2 11783834 stop gained C/T snv 1.6E-05 7.0E-05
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		Musculoskeletal Diseases 0.700 0
dbSNP: rs119480073
rs119480073 		1.000 0.040 2 11819590 stop gained C/A;T snv 8.0E-06; 1.2E-05
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		Musculoskeletal Diseases 0.700 0
dbSNP: rs730880306
rs730880306 		1.000 0.040 2 11785078 splice donor variant T/C snv
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		Musculoskeletal Diseases 0.700 0