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: rs76901081
rs76901081
1 1.000 0.040 11 44124941 missense variant G/A snv 5.7E-04 2.0E-04 0.010 1.000 1 2005 2005
dbSNP: rs773198507
rs773198507
1 1.000 0.040 8 118110148 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs587776540
rs587776540
1 1.000 0.040 8 118110512 frameshift variant CACTTTGG/- delins 0.700 0
dbSNP: rs1035549573
rs1035549573
3 0.882 0.120 21 36767227 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4730222
rs4730222
4 0.851 0.040 7 107169848 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2008 2008