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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.935 46 2001 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.943 35 2001 2019
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2013 2017
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2015 2017
dbSNP: rs200890679
rs200890679
7 0.790 0.240 1 11795191 missense variant C/A;G snv 1.8E-04 2.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs35134728
rs35134728
3 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
3 0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55 0.010 1.000 1 2017 2017