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: rs104894501
rs104894501
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2013
dbSNP: rs104894505
rs104894505
4 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2017
dbSNP: rs1212453165
rs1212453165
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2017
dbSNP: rs758264780
rs758264780
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.040 1.000 4 2005 2013
dbSNP: rs199476301
rs199476301
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs199476317
rs199476317
6 0.827 0.080 15 63062263 missense variant G/A snv 0.020 1.000 2 2010 2017
dbSNP: rs1071646
rs1071646
1 1.000 0.040 15 63059641 splice region variant C/A snv 0.67 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1346512134
rs1346512134
1 1.000 0.040 15 63042909 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs192883939
rs192883939
1 1.000 0.040 15 63057032 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs199476314
rs199476314
4 0.882 0.040 15 63060930 missense variant T/G snv 0.010 1.000 1 2005 2005
dbSNP: rs199476316
rs199476316
3 0.925 0.080 15 63062219 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs6738
rs6738
1 1.000 0.040 15 63071702 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs7178040
rs7178040
1 1.000 0.040 15 63071899 3 prime UTR variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs886039024
rs886039024
1 1.000 0.040 15 63060900 missense variant A/G snv 0.010 1.000 1 2015 2015