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: rs121918661
rs121918661
3 0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04 0.700 1.000 4 2005 2009
dbSNP: rs121918662
rs121918662
3 0.882 0.120 5 1279341 missense variant C/T snv 7.0E-06 0.700 1.000 4 2005 2009
dbSNP: rs483352771
rs483352771
1 1.000 0.040 5 1272213 missense variant G/A;C;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 2005 2009
dbSNP: rs149566858
rs149566858
1 1.000 0.040 5 1278750 missense variant G/A snv 5.2E-05 6.3E-05 0.700 0
dbSNP: rs199422294
rs199422294
5 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
dbSNP: rs199422295
rs199422295
3 0.882 0.120 5 1279376 missense variant C/T snv 0.700 0
dbSNP: rs34094720
rs34094720
3 0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06 0.700 0