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: rs777345988
rs777345988
4 0.851 0.080 6 135203257 missense variant A/C;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs750311598
rs750311598
2 0.925 0.080 6 135217906 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2018 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 0.667 3 2018 2019