VPS35, VPS35 retromer complex component, 55737

N. diseases: 66; N. variants: 6
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: rs188286943
rs188286943 		0.776 0.160 16 46662452 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 1.000 4 2011 2015
dbSNP: rs770029606
rs770029606 		1.000 16 46674629 missense variant G/A snv 7.7E-05 9.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2011 2011