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: rs823156
rs823156
1 1.000 0.040 1 205795512 non coding transcript exon variant G/A snv 0.77 0.70 0.850 1.000 7 2011 2019
dbSNP: rs708730
rs708730
1 1.000 0.040 1 205808652 intron variant G/A snv 0.66 0.720 1.000 4 2011 2015
dbSNP: rs11240569
rs11240569
1 1.000 0.040 1 205810103 synonymous variant G/A snv 0.29 0.23 0.020 1.000 2 2015 2016
dbSNP: rs1305279636
rs1305279636
1 1.000 0.040 1 205796947 missense variant G/A snv 1.2E-05 0.020 1.000 2 2010 2013
dbSNP: rs373421823
rs373421823
1 1.000 0.040 1 205798782 missense variant C/T snv 3.2E-05 0.010 1.000 1 2014 2014