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: rs121908975
rs121908975
SLC37A4 ; TRAPPC4
1 1.000 0.080 11 119025251 stop gained C/A;T snv 1.2E-05 0.700 0
dbSNP: rs121908977
rs121908977
SLC37A4
1 1.000 0.080 11 119027013 inframe deletion CAC/- delins 0.700 0
dbSNP: rs121908979
rs121908979
SLC37A4 ; TRAPPC4
1 1.000 0.080 11 119024957 stop gained G/A;T snv 4.4E-05 0.700 0
dbSNP: rs1444468055
rs1444468055
SLC37A4
1 1.000 0.080 11 119029260 stop gained G/T snv 1.2E-05 0.700 0
dbSNP: rs1447366650
rs1447366650
SLC37A4
1 1.000 0.080 11 119029293 frameshift variant GTAA/- delins 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1449998297
rs1449998297
SLC37A4
1 1.000 0.080 11 119029220 splice donor variant A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1459811938
rs1459811938
SLC37A4 ; TRAPPC4
1 1.000 0.080 11 119025188 splice donor variant -/A delins 2.1E-05 0.700 0
dbSNP: rs1555190559
rs1555190559
SLC37A4 ; TRAPPC4
1 1.000 0.080 11 119025326 splice acceptor variant AGAGCTG/- del 0.700 0
dbSNP: rs1555190745
rs1555190745
SLC37A4
1 1.000 0.080 11 119026038 frameshift variant -/GC ins 0.700 0
dbSNP: rs1555190956
rs1555190956
SLC37A4
1 1.000 0.080 11 119026625 frameshift variant GTAG/- delins 0.700 0
dbSNP: rs1555190969
rs1555190969
SLC37A4
1 1.000 0.080 11 119026635 missense variant C/G snv 0.700 0
dbSNP: rs1555190992
rs1555190992
SLC37A4
1 1.000 0.080 11 119026668 frameshift variant G/- delins 0.700 0
dbSNP: rs1555191105
rs1555191105
SLC37A4
1 1.000 0.080 11 119027045 frameshift variant G/- delins 0.700 0
dbSNP: rs1555191512
rs1555191512
SLC37A4
1 1.000 0.080 11 119028205 frameshift variant C/- delins 0.700 0
dbSNP: rs1555191573
rs1555191573
SLC37A4
1 1.000 0.080 11 119028298 frameshift variant -/T delins 0.700 0
dbSNP: rs1555191580
rs1555191580
SLC37A4
1 1.000 0.080 11 119028305 frameshift variant -/AGCCAACCAGG delins 0.700 0
dbSNP: rs193302877
rs193302877
SLC37A4
1 1.000 0.080 11 119028426 missense variant C/G;T snv 5.4E-06; 5.4E-06 0.700 0
dbSNP: rs193302879
rs193302879
SLC37A4
2 1.000 0.080 11 119027811 missense variant G/A snv 8.3E-06 0.700 0
dbSNP: rs193302884
rs193302884
SLC37A4
1 1.000 0.080 11 119028412 missense variant T/G snv 0.700 0
dbSNP: rs193302889
rs193302889
SLC37A4
3 0.882 0.120 11 119029289 missense variant A/T snv 8.0E-06 0.700 0
dbSNP: rs193302890
rs193302890
SLC37A4
1 1.000 0.080 11 119027796 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs193302891
rs193302891
SLC37A4
1 1.000 0.080 11 119026049 missense variant T/G snv 4.3E-06 0.700 0
dbSNP: rs193302892
rs193302892
SLC37A4
1 1.000 0.080 11 119027808 missense variant C/T snv 2.9E-05 0.700 0
dbSNP: rs193302893
rs193302893
SLC37A4
1 1.000 0.080 11 119027706 missense variant A/G snv 4.2E-06 0.700 0
dbSNP: rs193302894
rs193302894
SLC37A4
1 1.000 0.080 11 119029222 missense variant C/G;T snv 0.700 0