Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434607
rs121434607
GDI1
1 1.000 X 154439027 missense variant T/C snv 0.800 0
dbSNP: rs121434609
rs121434609
GDI1 ; FAM50A
1 1.000 X 154442596 missense variant G/C snv 0.800 0
dbSNP: rs121434608
rs121434608
GDI1
1 1.000 X 154438819 stop gained C/T snv 0.700 0
dbSNP: rs398122814
rs398122814
GDI1 ; FAM50A
1 1.000 X 154442420 frameshift variant AG/- delins 0.700 0