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: rs104894299
rs104894299
RAPSN
6 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.800 1.000 19 2002 2014
dbSNP: rs121909254
rs121909254
RAPSN
2 0.925 0.080 11 47448832 missense variant C/A;G;T snv 4.0E-06; 3.6E-05 0.800 1.000 10 2002 2009
dbSNP: rs104894293
rs104894293
RAPSN
1 1.000 11 47441675 missense variant A/G snv 4.1E-05 5.6E-05 0.800 1.000 9 2002 2007
dbSNP: rs104894294
rs104894294
RAPSN
2 1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05 0.800 1.000 9 2002 2007
dbSNP: rs104894300
rs104894300
RAPSN
1 1.000 11 47448924 missense variant A/G snv 8.0E-06 0.800 1.000 9 2002 2007
dbSNP: rs121909255
rs121909255
RAPSN
2 0.925 0.080 11 47447859 missense variant C/T snv 2.4E-05 1.4E-05 0.800 1.000 9 2002 2007
dbSNP: rs786200905
rs786200905
RAPSN
3 0.882 0.120 11 47449174 upstream gene variant T/C snv 2.1E-05 0.700 1.000 5 2003 2012
dbSNP: rs104894301
rs104894301
RAPSN
1 1.000 11 47441716 stop gained G/A;T snv 1.6E-05; 4.1E-06 0.700 0
dbSNP: rs1479498379
rs1479498379
RAPSN
2 0.925 0.080 11 47447973 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1555142603
rs1555142603
RAPSN
2 0.925 0.080 11 47441670 stop gained G/A snv 0.700 0
dbSNP: rs45547231
rs45547231
RAPSN
1 1.000 11 47448165 intron variant G/A;T snv 0.11; 4.1E-06 0.700 0
dbSNP: rs786200904
rs786200904
RAPSN
1 1.000 11 47442792 frameshift variant -/AACAG delins 0.700 0
dbSNP: rs786205885
rs786205885
RAPSN
1 1.000 11 47438813 frameshift variant -/AG delins 0.700 0