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: rs113899791
rs113899791
2 16 85902784 5 prime UTR variant GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT delins 0.700 1.000 1 2016 2016
dbSNP: rs2292982
rs2292982
3 1.000 0.120 16 85911217 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs34993178
rs34993178
2 16 85900909 intron variant -/T delins 0.15 0.700 1.000 1 2016 2016
dbSNP: rs424971
rs424971
2 16 85912844 intron variant T/C snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs56177354
rs56177354
3 1.000 0.040 16 85899046 upstream gene variant C/T snv 4.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs8064111
rs8064111
2 16 85913869 intron variant C/A;T snv 9.6E-02 0.700 1.000 1 2016 2016