SLC22A4, solute carrier family 22 member 4, 6583

N. diseases: 90; N. variants: 21
Disease: Familial (FPAH) ×
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: rs1050152
rs1050152 		0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2010 2010
dbSNP: rs272879
rs272879 		0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2010 2010