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: rs193302900
rs193302900
SLC37A4
1 1.000 0.080 11 119026640 missense variant A/T snv 7.0E-06 0.800 1.000 24 1997 2011
dbSNP: rs80356489
rs80356489
SLC37A4
3 0.882 0.200 11 119028223 missense variant A/G snv 7.0E-06 0.810 1.000 21 1997 2014
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
1 1.000 0.080 11 119025298 missense variant C/T snv 0.800 1.000 20 1997 2011
dbSNP: rs193302902
rs193302902
SLC37A4
1 1.000 0.080 11 119027035 missense variant A/G snv 7.0E-06 0.700 1.000 20 1997 2011
dbSNP: rs193302903
rs193302903
SLC37A4
1 1.000 0.080 11 119026052 missense variant C/T snv 0.700 1.000 20 1997 2011
dbSNP: rs193302888
rs193302888
SLC37A4
1 1.000 0.080 11 119027681 missense variant G/A snv 0.800 1.000 5 2000 2008
dbSNP: rs193302883
rs193302883
SLC37A4
1 1.000 0.080 11 119027806 missense variant C/T snv 1.4E-05 0.800 1.000 3 2002 2014
dbSNP: rs193302887
rs193302887
SLC37A4
2 1.000 0.080 11 119029300 missense variant A/G snv 0.800 1.000 2 2002 2008
dbSNP: rs1555191406
rs1555191406
SLC37A4
1 1.000 0.080 11 119027873 splice acceptor variant C/- del 0.700 1.000 1 2009 2009
dbSNP: rs193302878
rs193302878
SLC37A4
1 1.000 0.080 11 119026985 missense variant A/G snv 0.710 1.000 1 2009 2009
dbSNP: rs193302885
rs193302885
SLC37A4
1 1.000 0.080 11 119028373 missense variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs193302886
rs193302886
SLC37A4
1 1.000 0.080 11 119028312 missense variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs782604758
rs782604758
SLC37A4
1 1.000 0.080 11 119028229 frameshift variant -/C;CC delins 0.700 1.000 1 1999 1999
dbSNP: rs786204637
rs786204637
SLC37A4
1 1.000 0.080 11 119028193 splice donor variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs121908977
rs121908977
SLC37A4
1 1.000 0.080 11 119027013 inframe deletion CAC/- delins 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