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: rs104894519
rs104894519
LITAF
3 0.882 0.080 16 11553576 missense variant C/T snv 0.810 1.000 11 2003 2017
dbSNP: rs104894521
rs104894521
LITAF
2 0.925 0.080 16 11553564 missense variant A/C snv 0.810 1.000 8 2003 2014
dbSNP: rs104894520
rs104894520
LITAF
2 0.925 0.080 16 11553566 missense variant G/T snv 0.800 1.000 7 2003 2014
dbSNP: rs104894522
rs104894522
LITAF
1 1.000 0.080 16 11553546 missense variant G/C snv 0.800 1.000 7 2003 2014
dbSNP: rs121908615
rs121908615
LITAF
2 0.925 0.120 16 11549693 missense variant C/T snv 4.0E-06 0.710 1.000 1 2016 2016
dbSNP: rs141862602
rs141862602
LITAF
1 1.000 0.080 16 11556585 missense variant G/A;C snv 5.9E-04 0.700 1.000 7 2003 2014
dbSNP: rs28928910
rs28928910
NEFL
11 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
dbSNP: rs797044847
rs797044847
LITAF
1 1.000 0.080 16 11549738 missense variant C/T snv 0.700 0
dbSNP: rs797044848
rs797044848
LITAF
1 1.000 0.080 16 11549719 missense variant G/C snv 0.700 0