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: 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: 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: 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: 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: 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: 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: 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: rs28940882
rs28940882
GALE
3 0.882 0.120 1 23798199 missense variant C/T snv 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: rs111033640
rs111033640
GALT
2 0.925 0.120 9 34646576 5 prime UTR variant GTCA/-;GTCAGTCA delins 4.7E-02 0.700 1.000 3 2001 2009
dbSNP: rs111033639
rs111033639
GALT
1 1.000 0.120 9 34646705 start lost A/G snv 0.700 0
dbSNP: rs1554709110
rs1554709110
GALT
1 1.000 0.120 9 34646717 frameshift variant -/GAACCGATCC delins 0.700 0
dbSNP: rs111033638
rs111033638
GALT
1 1.000 0.120 9 34646721 frameshift variant C/- delins 0.700 1.000 1 2005 2005
dbSNP: rs111033848
rs111033848
GALT
1 1.000 0.120 9 34646729 stop gained C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs111033637
rs111033637
GALT
1 1.000 0.120 9 34646731 missense variant G/C snv 0.700 1.000 21 1991 2016
dbSNP: rs111033634
rs111033634
GALT
1 1.000 0.120 9 34646745 frameshift variant C/TT delins 0.700 0
dbSNP: rs111033635
rs111033635
GALT
1 1.000 0.120 9 34646771 missense variant A/G snv 0.810 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: rs1057517415
rs1057517415
GALT
1 1.000 0.120 9 34647087 splice acceptor variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs111033834
rs111033834
GALT
1 1.000 0.120 9 34647096 missense variant G/C snv 0.700 0
dbSNP: rs111033644
rs111033644
GALT
1 1.000 0.120 9 34647101 missense variant T/A snv 0.800 1.000 21 1991 2016
dbSNP: rs111033829
rs111033829
GALT
1 1.000 0.120 9 34647104 missense variant G/A snv 0.800 1.000 5 2006 2016
dbSNP: rs111033836
rs111033836
GALT
1 1.000 0.120 9 34647106 missense variant T/A snv 0.800 1.000 2 2012 2015
dbSNP: rs111033646
rs111033646
GALT
1 1.000 0.120 9 34647119 splice acceptor variant A/C snv 0.800 1.000 21 1991 2016