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: rs3013795
rs3013795
1 10 46313639 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs35237909
rs35237909
1 6 27256188 3 prime UTR variant ATCT/- delins 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs3797579
rs3797579
1 5 75574232 intron variant A/G snv 9.9E-04 0.700 1.000 1 2017 2017
dbSNP: rs4642515
rs4642515
1 6 32664039 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs57620710
rs57620710
1 14 53694373 intron variant GGAGGT/- delins 0.78 0.700 1.000 1 2017 2017
dbSNP: rs6762719
rs6762719
TF
4 3 133761973 non coding transcript exon variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs73214671
rs73214671
1 4 7570384 intron variant G/A snv 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs73373322
rs73373322
2 17 77385957 intron variant C/T snv 3.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 1 2014 2014
dbSNP: rs8177240
rs8177240
TF
5 3 133758857 intron variant T/C;G snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs9990333
rs9990333
4 3 196100334 intergenic variant C/T snv 0.42 0.700 1.000 1 2014 2014