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: rs121908047
rs121908047
GALE
4 0.851 0.120 1 23798188 missense variant C/T snv 8.0E-06 1.4E-05 0.020 1.000 2 2005 2013
dbSNP: rs28940884
rs28940884
GALE
3 0.882 0.120 1 23796722 missense variant T/C snv 1.4E-03 5.8E-03 0.020 1.000 2 2005 2005
dbSNP: rs137853859
rs137853859
GALE
3 0.882 0.120 1 23797718 missense variant G/A;T snv 7.2E-05; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs137853860
rs137853860
GALE
3 0.882 0.120 1 23796777 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs137853861
rs137853861
GALE
3 0.882 0.120 1 23796234 missense variant C/T snv 2.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs28940882
rs28940882
GALE
3 0.882 0.120 1 23798199 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs28940885
rs28940885
GALE
2 0.925 0.120 1 23796183 missense variant C/T snv 3.5E-04 1.2E-03 0.010 1.000 1 2005 2005
dbSNP: rs3180383
rs3180383
GALE
3 0.882 0.120 1 23796202 missense variant G/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
3 0.882 0.120 1 23795992 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs949142013
rs949142013
BRD2
2 0.925 0.120 6 32977541 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.890 1.000 35 1991 2016
dbSNP: rs111033670
rs111033670
GALT
1 1.000 0.120 9 34647531 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.800 1.000 32 1991 2017
dbSNP: rs111033773
rs111033773
GALT
3 0.882 0.200 9 34649032 missense variant G/T snv 1.4E-04 1.7E-04 0.840 1.000 29 1991 2016
dbSNP: rs111033658
rs111033658
GALT
1 1.000 0.120 9 34647205 missense variant C/T snv 1.4E-05 0.800 1.000 27 1991 2016
dbSNP: rs786204763
rs786204763
GALT
1 1.000 0.120 9 34648849 missense variant C/T snv 1.2E-05 0.800 1.000 27 1991 2016
dbSNP: rs75391579
rs75391579
GALT
5 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.900 0.962 26 1991 2018
dbSNP: rs368166217
rs368166217
GALT
1 1.000 0.120 9 34648846 missense variant C/T snv 3.2E-05 1.4E-05 0.800 1.000 25 1991 2019
dbSNP: rs367543258
rs367543258
GALT
1 1.000 0.120 9 34647956 missense variant G/A;T snv 0.800 1.000 24 1991 2016
dbSNP: rs111033669
rs111033669
GALT
1 1.000 0.120 9 34647529 missense variant A/G snv 4.0E-06 0.800 1.000 23 1991 2016
dbSNP: rs111033690
rs111033690
GALT
3 0.882 0.120 9 34647858 missense variant C/G;T snv 4.0E-06; 2.5E-04 0.850 1.000 23 1992 2017
dbSNP: rs111033635
rs111033635
GALT
1 1.000 0.120 9 34646771 missense variant A/G snv 0.810 1.000 22 1991 2016
dbSNP: rs111033674
rs111033674
GALT
1 1.000 0.120 9 34647695 stop gained C/G;T snv 1.2E-05 0.800 1.000 22 1991 2016
dbSNP: rs111033636
rs111033636
GALT
1 1.000 0.120 9 34646786 missense variant G/A;C;T snv 0.800 1.000 21 1991 2016
dbSNP: rs111033637
rs111033637
GALT
1 1.000 0.120 9 34646731 missense variant G/C snv 0.700 1.000 21 1991 2016
dbSNP: rs111033644
rs111033644
GALT
1 1.000 0.120 9 34647101 missense variant T/A snv 0.800 1.000 21 1991 2016