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: rs151045328
rs151045328
5 0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-05 2.1E-05 0.700 1.000 1 2000 2000
dbSNP: rs397515359
rs397515359
5 0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-04 0.700 1.000 1 2000 2000
dbSNP: rs1355262412
rs1355262412
3 0.882 0.200 11 17524446 splice donor variant CCTCCAATCCCACCTCA/- delins 7.0E-06 0.700 0