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: rs11571818
rs11571818
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs11571833
rs11571833
21 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs56335340
rs56335340
1 1.000 0.080 13 32357883 missense variant C/T snv 4.4E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs886040557
rs886040557
4 0.882 0.240 13 32339317 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs80359596
rs80359596
6 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 0