Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912724
rs121912724
APOA1 ; APOA1-AS
1.000 0.080 11 116836361 missense variant A/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.800 1.000 4 1988 1994
dbSNP: rs121909612
rs121909612
FGA
0.807 0.160 4 154585795 missense variant T/A snv 4.0E-06 7.0E-06
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.800 1.000 1 1993 1993
dbSNP: rs121913547
rs121913547
LYZ
0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.800 1.000 1 1993 1993
dbSNP: rs398122820
rs398122820
B2M
0.790 0.240 15 44715641 missense variant G/A snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.800 1.000 1 2012 2012
dbSNP: rs78506343
rs78506343
FGA
1.000 0.080 4 154585711 splice acceptor variant C/A;G;T snv 4.0E-06; 4.4E-05
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.800 1.000 1 1993 1993
dbSNP: rs28931574
rs28931574
APOA1 ; APOA1-AS
0.925 0.120 11 116837053 missense variant C/G;T snv 2.8E-05
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 1.000 4 1988 1994
dbSNP: rs121913548
rs121913548
LYZ
1.000 0.080 12 69350224 missense variant G/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 1.000 1 1993 1993