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: rs1085308042
rs1085308042
4 0.882 0.120 10 87894076 missense variant G/A snv 0.700 0
dbSNP: rs1085308044
rs1085308044
5 0.882 0.120 10 87864504 missense variant A/C snv 0.700 0
dbSNP: rs1085308045
rs1085308045
8 0.807 0.160 10 87933128 missense variant C/G;T snv 0.700 0
dbSNP: rs1085308046
rs1085308046
9 0.790 0.240 10 87933160 missense variant T/C;G snv 0.700 0
dbSNP: rs1085308047
rs1085308047
6 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
dbSNP: rs1085308048
rs1085308048
6 0.851 0.320 10 87933175 stop gained T/G snv 0.700 0
dbSNP: rs1085308050
rs1085308050
7 0.827 0.160 10 87933178 frameshift variant -/A delins 0.700 0
dbSNP: rs1085308051
rs1085308051
6 0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1085308052
rs1085308052
5 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0
dbSNP: rs1085308054
rs1085308054
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs1085308055
rs1085308055
4 0.882 0.120 10 87952240 frameshift variant TCAGT/- delins 0.700 0
dbSNP: rs1085308056
rs1085308056
8 0.851 0.160 10 87957850 splice region variant C/G snv 0.700 0
dbSNP: rs121913294
rs121913294
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs1554893835
rs1554893835
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
dbSNP: rs786204858
rs786204858
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 0