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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2010 2016
dbSNP: rs1555526470
rs1555526470
1 1.000 0.120 17 7675992 splice region variant -/C delins 0.700 1.000 2 2007 2010
dbSNP: rs1555523630
rs1555523630
1 1.000 0.120 17 7668202 intron variant -/C delins 0.700 0
dbSNP: rs1555525140
rs1555525140
1 1.000 0.120 17 7673749 frameshift variant -/G delins 0.700 0
dbSNP: rs1131691004
rs1131691004
2 1.000 0.120 17 7676039 frameshift variant -/GAAACCG delins 0.700 1.000 1 2009 2009
dbSNP: rs1567552753
rs1567552753
1 1.000 0.120 17 7675076 frameshift variant -/GGTGGGGGCAGCGCCTCAC delins 0.700 0
dbSNP: rs1555526748
rs1555526748
1 1.000 0.120 17 7676212 frameshift variant -/T delins 0.700 0
dbSNP: rs1555526495
rs1555526495
1 1.000 0.120 17 7676004 frameshift variant -/TTGGCTGTCCCAGAATGCAAGAAGCCCAGAC delins 0.700 0
dbSNP: rs1555526593
rs1555526593
1 1.000 0.120 17 7676074 frameshift variant A/- delins 0.700 0
dbSNP: rs1555526997
rs1555526997
1 1.000 0.120 17 7676550 frameshift variant A/- del 0.700 0
dbSNP: rs193920789
rs193920789
1 1.000 0.120 17 7674249 missense variant A/C snv 0.700 0
dbSNP: rs1057519986
rs1057519986
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 2 2003 2003
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.800 1.000 12 1990 2014
dbSNP: rs28934577
rs28934577
2 1.000 0.120 17 7674193 missense variant A/C;G;T snv 0.700 1.000 11 1990 2014
dbSNP: rs864622237
rs864622237
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 9 1994 2013
dbSNP: rs876660821
rs876660821
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 9 2003 2018
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.700 1.000 6 2003 2016
dbSNP: rs1555526469
rs1555526469
3 0.925 0.240 17 7675992 splice donor variant A/C;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs587780074
rs587780074
3 0.925 0.200 17 7674226 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1131691016
rs1131691016
3 0.925 0.240 17 7673699 splice donor variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.800 1.000 25 1990 2017
dbSNP: rs121912662
rs121912662
2 0.925 0.120 17 7670678 missense variant A/G snv 0.800 1.000 21 1990 2017
dbSNP: rs121912653
rs121912653
2 0.925 0.120 17 7674208 missense variant A/G snv 0.700 1.000 18 1990 2017
dbSNP: rs28934873
rs28934873
3 0.925 0.120 17 7675214 start lost A/G snv 0.700 1.000 18 1990 2017
dbSNP: rs1057523347
rs1057523347
2 0.925 0.160 17 7673789 stop gained A/G;T snv 0.700 0