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: rs505802
rs505802
4 0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45 0.800 1.000 3 2009 2019
dbSNP: rs10897518
rs10897518
3 0.925 0.120 11 64593233 intron variant C/T snv 0.51 0.800 1.000 2 2009 2015
dbSNP: rs121907892
rs121907892
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.700 1.000 1 2018 2018
dbSNP: rs12800450
rs12800450
3 0.925 0.120 11 64591749 missense variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs147647315
rs147647315
1 11 64600382 missense variant G/A snv 1.6E-03 4.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs2022051
rs2022051
1 11 64600117 intron variant A/G snv 0.34 0.700 1.000 1 2019 2019