SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
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: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 1.000 13 2000 2018
dbSNP: rs104893878
rs104893878 		0.732 0.160 4 89835580 missense variant C/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.080 1.000 8 2000 2019
dbSNP: rs104893875
rs104893875 		0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs542171324
rs542171324 		0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018