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: rs1396313317
rs1396313317
1 1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs369867547
rs369867547
1 1.000 0.040 7 147903657 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121908445
rs121908445
2 0.925 0.040 7 148147542 missense variant T/C snv 3.3E-04 1.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs7794745
rs7794745
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.040 1.000 4 2010 2019
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.030 1.000 3 2011 2019