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
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: rs28931574
rs28931574
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