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: rs387906693
rs387906693
1 1.000 0.240 17 68530420 missense variant T/C snv 0.800 1.000 7 2011 2015
dbSNP: rs387906694
rs387906694
1 1.000 0.240 17 68530307 missense variant G/C snv 0.800 1.000 7 2011 2015
dbSNP: rs387906695
rs387906695
2 0.925 0.240 17 68530283 missense variant T/C snv 0.800 1.000 7 2011 2015
dbSNP: rs1555814719
rs1555814719
1 1.000 0.240 17 68528954 missense variant A/G snv 0.700 1.000 7 2011 2015
dbSNP: rs1555815121
rs1555815121
6 0.851 0.360 17 68530306 missense variant C/T snv 0.700 1.000 3 2012 2013
dbSNP: rs387906692
rs387906692
11 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0