Source: ALL
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: rs12630592
rs12630592
5 0.851 0.080 3 120049399 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs496250
rs496250
5 0.851 0.080 3 180909515 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2227283
rs2227283
3 0.882 0.080 6 102055442 missense variant G/A;C;T snv 0.40; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs6922753
rs6922753
1 1.000 0.040 6 101799798 splice region variant T/C snv 0.25 0.26 0.010 1.000 1 2019 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2011 2012