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: rs75864656
rs75864656
2 0.925 0.080 1 36099217 missense variant C/G;T snv 7.4E-06; 2.6E-02 0.020 1.000 2 2004 2006
dbSNP: rs80358191
rs80358191
3 0.882 0.080 1 36098318 missense variant G/T snv 0.020 1.000 2 2009 2012
dbSNP: rs117860804
rs117860804
1 1.000 0.080 1 36098176 missense variant G/A;C snv 3.0E-02; 1.6E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs201235688
rs201235688
2 0.925 0.080 1 36098380 missense variant C/A;T snv 1.2E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs727504229
rs727504229
2 0.925 0.080 1 36098317 missense variant TG/AC mnv 0.010 1.000 1 2009 2009
dbSNP: rs80358192
rs80358192
6 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.010 1.000 1 2009 2009