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: rs1057520063
rs1057520063
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1060502227
rs1060502227
6 0.851 0.120 2 32136593 missense variant C/G;T snv 0.700 0
dbSNP: rs149830411
rs149830411
15 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
dbSNP: rs1563005360
rs1563005360
11 0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs398123425
rs398123425
9 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
dbSNP: rs542489955
rs542489955
6 0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 0.700 0