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: rs1382225004
rs1382225004
1 1.000 11 61779333 missense variant G/A snv 0.800 0
dbSNP: rs1565286228
rs1565286228
6 0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 0.700 0
dbSNP: rs1565295395
rs1565295395
1 1.000 11 61774103 frameshift variant -/GA delins 0.700 0
dbSNP: rs1565295550
rs1565295550
1 1.000 11 61774154 missense variant G/A snv 0.700 0
dbSNP: rs1565304230
rs1565304230
1 1.000 11 61780991 stop gained C/T snv 0.700 0
dbSNP: rs1565307564
rs1565307564
7 0.807 0.120 11 61783599 missense variant A/G snv 0.700 0
dbSNP: rs1565308384
rs1565308384
5 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0