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: rs767833468
rs767833468
MTTP
1 1.000 0.080 4 99618993 missense variant G/A snv 4.0E-06 0.800 1.000 8 1996 2015
dbSNP: rs199422220
rs199422220
MTTP
1 1.000 0.080 4 99608827 missense variant G/A snv 1.6E-05 3.5E-05 0.800 1.000 3 1996 2013
dbSNP: rs199422221
rs199422221
MTTP
1 1.000 0.080 4 99619094 missense variant A/T snv 0.800 1.000 3 2000 2013
dbSNP: rs199422222
rs199422222
MTTP
1 1.000 0.080 4 99608977 missense variant G/T snv 0.800 1.000 3 2003 2013
dbSNP: rs1367079155
rs1367079155
MTTP
1 1.000 0.080 4 99594764 missense variant G/C snv 4.0E-06 0.700 1.000 7 1996 2015
dbSNP: rs1485375137
rs1485375137
MTTP
1 1.000 0.080 4 99608790 missense variant T/C snv 7.0E-06 0.700 1.000 7 1996 2015
dbSNP: rs372321643
rs372321643
MTTP
1 1.000 0.080 4 99608826 missense variant C/T snv 2.8E-05 4.2E-05 0.700 1.000 7 1996 2015
dbSNP: rs146064714
rs146064714
MTTP
1 1.000 0.080 4 99622756 stop gained G/T snv 1.2E-04 3.5E-05 0.700 1.000 4 1995 2007
dbSNP: rs755681036
rs755681036
MTTP
1 1.000 0.080 4 99613134 frameshift variant T/- delins 0.700 1.000 2 1995 2008
dbSNP: rs1560614646
rs1560614646
MTTP
1 1.000 0.080 4 99583431 stop gained A/T snv 0.700 1.000 1 2007 2007
dbSNP: rs1560621495
rs1560621495
MTTP
1 1.000 0.080 4 99601674 missense variant T/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1553926818
rs1553926818
MTTP
1 1.000 0.080 4 99591735 frameshift variant CA/- delins 0.700 0
dbSNP: rs1553927840
rs1553927840
MTTP
1 1.000 0.080 4 99608764 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1560614154
rs1560614154
MTTP
1 1.000 0.080 4 99582057 frameshift variant C/- delins 0.700 0
dbSNP: rs1560621444
rs1560621444
MTTP
1 1.000 0.080 4 99601606 splice acceptor variant G/A snv 0.700 0
dbSNP: rs199422219
rs199422219
MTTP
1 1.000 0.080 4 99611156 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1210484348
rs1210484348
ABL1
3 0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143683481
rs143683481
HADHB
1 1.000 0.080 2 26278736 missense variant G/A snv 9.1E-05 3.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs750956714
rs750956714
HADHB
1 1.000 0.080 2 26277125 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019