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: rs949944999
rs949944999
1 6 27873237 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519511
rs1057519511
2 1.000 3 9734500 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057519522
rs1057519522
2 1.000 10 129877788 stop gained G/A snv 0.700 0
dbSNP: rs1555349214
rs1555349214
2 14 36517838 frameshift variant G/- delins 0.700 0
dbSNP: rs387906726
rs387906726
3 0.925 0.040 X 15321727 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs745638189
rs745638189
2 1.000 0.040 10 87960997 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs267606827
rs267606827
3 0.925 0.120 14 28768203 stop gained G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs869312704
rs869312704
10 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
dbSNP: rs145606134
rs145606134
5 0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2020 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2020 2020
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2007 2007