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: rs200649783
rs200649783
5 0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05 0.800 1.000 3 2011 2017
dbSNP: rs431905505
rs431905505
1 1.000 2 19973664 missense variant A/G snv 4.0E-06 7.0E-06 0.800 0
dbSNP: rs371669862
rs371669862
2 0.925 2 19960553 splice donor variant C/A;G;T snv 8.0E-06 0.700 1.000 6 2011 2018
dbSNP: rs199952377
rs199952377
4 0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04 0.700 1.000 3 2013 2017
dbSNP: rs1050086118
rs1050086118
2 0.925 0.080 2 19946549 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1558342399
rs1558342399
2 0.925 0.080 2 19953834 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs746128772
rs746128772
2 0.925 2 19914054 synonymous variant C/T snv 1.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs1327489348
rs1327489348
2 0.925 2 19962311 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs1553317813
rs1553317813
2 0.925 2 19941837 splice acceptor variant CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- delins 0.700 0
dbSNP: rs1553324519
rs1553324519
1 1.000 2 19982552 intron variant A/T snv 0.700 0
dbSNP: rs199840434
rs199840434
2 0.925 2 19969494 stop gained G/A snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs387907085
rs387907085
1 1.000 2 19946495 stop gained G/A;C snv 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs767751856
rs767751856
2 0.925 2 19953853 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0