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: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs727503094
rs727503094
6 0.821 0.143 11 534287 stop gained GC/TA,AG,AT,TT multinucleotide-polymorphism 0.010 1.000 1 2013 2013