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 0.936 156 1996 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.762 21 2000 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.060 1.000 6 2013 2018
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.020 1.000 2 1999 2000
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2018 2018
dbSNP: rs765625943
rs765625943
4 0.882 0.200 1 11803417 missense variant G/A snv 4.3E-06 0.010 1.000 1 2001 2001