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: rs587776705
rs587776705
1 1.000 0.160 2 47803633 inframe deletion GTG/- del 0.700 0
dbSNP: rs587776706
rs587776706
2 1.000 0.160 2 47805692 frameshift variant -/T delins 0.700 0
dbSNP: rs63749843
rs63749843
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 0
dbSNP: rs63749999
rs63749999
6 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs63751017
rs63751017
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 0
dbSNP: rs876660943
rs876660943
5 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
dbSNP: rs763606858
rs763606858
3 0.882 0.200 2 47799854 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008