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: rs1131692245
rs1131692245
7 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
dbSNP: rs757075712
rs757075712
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs1049305
rs1049305
4 0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs113090017
rs113090017
4 0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs3741559
rs3741559
3 1.000 0.160 12 49951193 splice region variant G/A snv 0.20 0.17 0.010 1.000 1 2011 2011
dbSNP: rs467323
rs467323
2 12 49955982 3 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011