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: rs807701
rs807701
1 1.000 0.120 6 24273563 intron variant G/A snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs9461045
rs9461045
1 1.000 0.120 6 24648833 upstream gene variant C/T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs9467075
rs9467075
2 0.925 0.120 6 24205008 synonymous variant G/A snv 0.13 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0