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: rs143149764
rs143149764
3 0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05 0.700 1.000 1 2011 2011
dbSNP: rs369488112
rs369488112
1 1.000 0.160 17 19343796 missense variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs373478202
rs373478202
1 1.000 0.160 17 19347840 missense variant G/A;C;T snv 3.6E-05; 4.0E-06; 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs771170000
rs771170000
2 0.925 0.160 17 19360357 missense variant T/C snv 1.2E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs886039811
rs886039811
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 0.700 0