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: rs121913341
rs121913341
5 0.851 0.280 7 140753350 missense variant A/C;T snv 0.700 0
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.943 35 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.943 35 2004 2019
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1238788540
rs1238788540
2 0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009