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: rs1057517119
rs1057517119
SLC17A5
1 1.000 0.120 6 73610538 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517269
rs1057517269
SLC17A5
1 1.000 0.120 6 73644483 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs1440688652
rs1440688652
SLC17A5
1 1.000 0.120 6 73636619 splice donor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1472109408
rs1472109408
SLC17A5
1 1.000 0.120 6 73636653 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs1554161865
rs1554161865
SLC17A5
1 1.000 0.120 6 73610451 frameshift variant C/- delins 0.700 0
dbSNP: rs1554162230
rs1554162230
SLC17A5
1 1.000 0.120 6 73615449 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554162842
rs1554162842
SLC17A5
1 1.000 0.120 6 73621964 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1554163878
rs1554163878
SLC17A5
1 1.000 0.120 6 73635482 frameshift variant -/A delins 0.700 0
dbSNP: rs1554163958
rs1554163958
SLC17A5
1 1.000 0.120 6 73636708 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554164078
rs1554164078
SLC17A5
1 1.000 0.120 6 73638410 splice donor variant A/T snv 0.700 0
dbSNP: rs1554164322
rs1554164322
SLC17A5
1 1.000 0.120 6 73641925 splice acceptor variant C/G snv 0.700 0
dbSNP: rs386833989
rs386833989
SLC17A5
2 0.925 0.120 6 73610433 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs386833991
rs386833991
SLC17A5
1 1.000 0.120 6 73641907 stop gained C/T snv 0.700 0
dbSNP: rs386833995
rs386833995
SLC17A5
1 1.000 0.120 6 73644604 splice acceptor variant C/G snv 8.0E-06 0.700 0
dbSNP: rs386833996
rs386833996
SLC17A5
2 0.925 0.120 6 73615443 missense variant C/T snv 0.700 0
dbSNP: rs771156053
rs771156053
SLC17A5
1 1.000 0.120 6 73621877 frameshift variant T/- delins 8.0E-06 2.8E-05 0.700 0
dbSNP: rs772039085
rs772039085
SLC17A5
1 1.000 0.120 6 73641867 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs777875898
rs777875898
PTGR1
2 1.000 0.120 9 111594264 frameshift variant A/- del 4.0E-06 7.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs121908623
rs121908623
CLTA ; GNE
2 0.925 0.120 9 36234114 missense variant C/A snv 0.010 1.000 1 2017 2017