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: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.700 1.000 22 1989 2016
dbSNP: rs74315405
rs74315405
6 0.827 0.160 20 4699813 missense variant T/C snv 0.700 1.000 8 1992 2015
dbSNP: rs193922906
rs193922906
4 0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins 0.700 0
dbSNP: rs74315407
rs74315407
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0