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: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 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 0.955 22 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.952 21 2004 2019
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs397507482
rs397507482
3 0.882 0.040 7 140753386 missense variant A/C snv 0.010 1.000 1 2019 2019