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: rs11087368
rs11087368
6 0.827 0.080 20 22057342 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs1160312
rs1160312
7 0.807 0.080 20 22069865 intron variant A/G snv 0.55 0.700 1.000 1 2008 2008
dbSNP: rs6047844
rs6047844
7 0.807 0.080 20 22056937 intron variant T/C snv 0.54 0.700 1.000 1 2012 2012