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: rs1057519837
rs1057519837
2 1.000 0.040 3 41224631 missense variant C/G;T snv 0.710 1.000 2 2011 2014
dbSNP: rs1057519836
rs1057519836
2 3 41224630 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913412
rs121913412
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.070 1.000 7 1998 2019
dbSNP: rs121913407
rs121913407
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.050 1.000 5 1999 2019
dbSNP: rs121913409
rs121913409
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.050 1.000 5 2002 2019
dbSNP: rs121913400
rs121913400
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.030 1.000 3 2011 2019
dbSNP: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs121913413
rs121913413
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs1233296947
rs1233296947
5 0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3864004
rs3864004
4 0.882 0.200 3 41198686 5 prime UTR variant G/A snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs4135385
rs4135385
14 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 0.010 1.000 1 2016 2016