Source: BEFREE

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: rs1210484348
rs1210484348
ABL1
0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.010 1.000 1 2019 2019
dbSNP: rs143683481
rs143683481
HADHB
1.000 0.080 2 26278736 missense variant G/A snv 9.1E-05 3.1E-04
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.010 1.000 1 2019 2019
dbSNP: rs750956714
rs750956714
HADHB
1.000 0.080 2 26277125 missense variant T/C snv 4.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.010 1.000 1 2019 2019