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: rs80356482
rs80356482
G6PC
5 0.851 0.160 17 42909418 missense variant G/A;C snv 1.6E-05; 5.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs121908978
rs121908978
SLC37A4
1 1.000 0.080 11 119029287 missense variant C/T snv 1.2E-05 0.800 1.000 29 1997 2017
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: 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: rs193302882
rs193302882
SLC37A4
1 1.000 0.080 11 119029288 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 8 1998 2014
dbSNP: rs781784543
rs781784543
SLC37A4
1 1.000 0.080 11 119026979 stop gained G/A snv 2.4E-05 0.700 1.000 6 1998 2014
dbSNP: rs193302881
rs193302881
SLC37A4
1 1.000 0.080 11 119029311 missense variant C/G;T snv 1.6E-05 1.4E-05 0.800 1.000 5 1998 2014
dbSNP: rs193302888
rs193302888
SLC37A4
1 1.000 0.080 11 119027681 missense variant G/A snv 0.800 1.000 5 2000 2008
dbSNP: rs786204477
rs786204477
SLC37A4
1 1.000 0.080 11 119026016 protein altering variant -/CCAGCCATCATG delins 4.2E-06 7.0E-06 0.700 1.000 5 1998 2014
dbSNP: rs121908976
rs121908976
SLC37A4
2 0.925 0.080 11 119028288 stop gained C/T snv 8.4E-06 0.700 1.000 4 1998 2005
dbSNP: rs786204740
rs786204740
SLC37A4
1 1.000 0.080 11 119029369 start lost T/C snv 4.1E-06 7.0E-06 0.700 1.000 4 1999 2004
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: rs551439289
rs551439289
SLC37A4
1 1.000 0.080 11 119027069 stop gained G/A snv 8.1E-06 7.0E-06 0.700 1.000 3 1998 2010
dbSNP: rs1182102272
rs1182102272
SLC37A4
1 1.000 0.080 11 119028215 frameshift variant -/G delins 8.8E-06 1.4E-05 0.700 1.000 2 2000 2000
dbSNP: rs193302887
rs193302887
SLC37A4
2 1.000 0.080 11 119029300 missense variant A/G snv 0.800 1.000 2 2002 2008
dbSNP: rs1474282972
rs1474282972
SLC37A4
1 1.000 0.080 11 119027658 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2013 2013
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: rs193302880
rs193302880
SLC37A4
1 1.000 0.080 11 119026053 missense variant G/A snv 1.3E-05 0.700 1.000 1 2014 2014
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: rs782645078
rs782645078
SLC37A4
1 1.000 0.080 11 119028192 splice donor variant A/C snv 5.0E-06 7.0E-06 0.700 1.000 1 2014 2014