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: rs374588807
rs374588807
1 22 21584179 intron variant TTT/-;T;TT;TTTT;TTTTT delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs4820091
rs4820091
2 22 21585900 intron variant T/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs4821112
rs4821112
4 22 21610472 intron variant G/A snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs5754217
rs5754217
7 0.925 0.120 22 21585386 intron variant G/T snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs8139142
rs8139142
1 22 21555991 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012