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: rs12140311
rs12140311
3 1.000 0.040 1 16052230 missense variant A/C;T snv 8.0E-06; 9.6E-02 0.030 0.667 3 2004 2011
dbSNP: rs10803414
rs10803414
2 1.000 0.040 1 16054087 intron variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs2275166
rs2275166
1 1.000 0.040 1 16053748 missense variant A/G snv 0.65 0.70 0.010 1.000 1 2015 2015
dbSNP: rs5253
rs5253
1 1.000 0.040 1 16053701 missense variant T/C snv 0.93 0.89 0.010 1.000 1 2015 2015
dbSNP: rs945393
rs945393
1 1.000 0.040 1 16043984 intron variant T/A;C;G snv 0.010 1.000 1 2012 2012