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: rs575266356
rs575266356
DYNC2LI1 ; ABCG5
1.000 0.120 2 43823926 missense variant G/A;C snv 1.3E-04; 1.6E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.710 1.000 4 2001 2004
dbSNP: rs119480069
rs119480069
DYNC2LI1 ; ABCG5
1.000 0.120 2 43824071 missense variant C/T snv 1.5E-04 8.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.710 1.000 0 2010 2010
dbSNP: rs119479067
rs119479067
DYNC2LI1 ; ABCG5
1.000 0.120 2 43823981 missense variant C/G;T snv 2.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.700 0
dbSNP: rs758551848
rs758551848
ABCG5 ; ABCG8
1.000 0.120 2 43831834 stop gained C/A;G snv
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.700 0