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: rs1131691015
rs1131691015
1 17 7676379 splice donor variant -/A delins 0.700 0
dbSNP: rs1131691041
rs1131691041
3 17 7676271 frameshift variant -/A delins 0.700 0
dbSNP: rs1567546818
rs1567546818
1 17 7673707 frameshift variant -/A delins 0.700 0
dbSNP: rs786202514
rs786202514
1 17 7675096 frameshift variant -/ACCTC delins 0.700 0
dbSNP: rs587782609
rs587782609
1 17 7676211 stop gained -/ATT delins 0.700 0
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.700 0
dbSNP: rs1555525226
rs1555525226
1 17 7673777 frameshift variant -/C ins 0.700 0
dbSNP: rs1555526784
rs1555526784
1 17 7676244 stop gained -/CCAT delins 0.700 0
dbSNP: rs1555525158
rs1555525158
1 17 7673757 frameshift variant -/CT delins 0.700 0
dbSNP: rs1555525156
rs1555525156
1 17 7673756 frameshift variant -/CTTCTCTTCCTCTGTGC delins 0.700 1.000 1 2003 2003
dbSNP: rs1131691004
rs1131691004
2 1.000 0.120 17 7676039 frameshift variant -/GAAACCG delins 0.700 1.000 1 2009 2009
dbSNP: rs1131691018
rs1131691018
1 17 7676537 frameshift variant A/- delins 0.700 0
dbSNP: rs1555525537
rs1555525537
1 17 7674249 frameshift variant A/- del 0.700 0
dbSNP: rs1555525279
rs1555525279
2 1.000 0.120 17 7673795 missense variant A/C snv 0.700 1.000 4 1994 2015
dbSNP: rs780442292
rs780442292
1 17 7675211 missense variant A/C snv 4.0E-06 0.700 1.000 3 2001 2008
dbSNP: rs876659076
rs876659076
1 17 7674179 splice donor variant A/C snv 0.700 0
dbSNP: rs587781589
rs587781589
2 1.000 0.120 17 7674268 missense variant A/C;G snv 0.700 1.000 3 2000 2016
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 9 1995 2017
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 5 2002 2011
dbSNP: rs786203436
rs786203436
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.700 1.000 5 1994 2011
dbSNP: rs864622237
rs864622237
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 5 1994 2013
dbSNP: rs876660821
rs876660821
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 5 2002 2013
dbSNP: rs1057520006
rs1057520006
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 3 2003 2012
dbSNP: rs530941076
rs530941076
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 3 1994 2016
dbSNP: rs587780074
rs587780074
3 0.925 0.200 17 7674226 missense variant A/C;G;T snv 0.700 1.000 3 1994 2015