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: rs104893885
rs104893885
1 1.000 0.250 5 44388366 missense variant C/A snp 0.800 2 2005 2006
dbSNP: rs121918509
rs121918509
1 1.000 0.250 10 121488095 missense variant C/T snp 0.800 2 2006 2008
dbSNP: rs104893886
rs104893886
1 1.000 0.250 5 44305155 missense variant A/C snp 0.800 1 2006 2006
dbSNP: rs121913112
rs121913112
1 1.000 0.250 4 1805561 missense variant G/A,C snp 4.8E-05; 4.0E-06 3.2E-05 0.800 1 2006 2006
dbSNP: rs121918508
rs121918508
1 1.000 0.250 10 121488035 missense variant C/T snp 0.800 1 2006 2006
dbSNP: rs104893887
rs104893887
2 0.923 0.250 5 44310447 stop gained T/A snp 0.700 1 2006 2006
dbSNP: rs104893888
rs104893888
2 0.923 0.250 5 44388443 missense variant T/G snp 0.700 1 2015 2015
dbSNP: rs879253720
rs879253720
1 1.000 0.250 10 121488028 inframe deletion ATCT/A in-del 0.700 1 2006 2006