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: rs786201085
rs786201085
1 1 17022615 missense variant C/T snv 0.700 1.000 5 2005 2012
dbSNP: rs876660642
rs876660642
1 1 17022660 frameshift variant A/- delins 4.0E-06 0.700 1.000 5 2005 2015
dbSNP: rs1278834014
rs1278834014
1 1 17023973 missense variant C/A;G;T snv 0.700 1.000 2 2006 2015
dbSNP: rs876659330
rs876659330
1 1 17044758 splice region variant C/G snv 0.700 1.000 2 2003 2015
dbSNP: rs1131691060
rs1131691060
1 1 17027866 splice acceptor variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs1228560456
rs1228560456
1 1 17023981 missense variant G/A;C snv 0.700 1.000 1 2005 2005
dbSNP: rs1553177290
rs1553177290
1 1 17022720 missense variant C/G snv 0.700 1.000 1 2006 2006
dbSNP: rs1553179337
rs1553179337
1 1 17053977 stop gained -/GCAACCGGCGCCTCAAGGAGAGGGCG delins 0.700 1.000 1 2013 2013
dbSNP: rs1553179359
rs1553179359
1 1 17053999 frameshift variant G/- del 0.700 1.000 1 2009 2009
dbSNP: rs397516834
rs397516834
1 1 17028608 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1064794270
rs1064794270
1 1 17028738 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1131691047
rs1131691047
1 1 17023976 frameshift variant C/- del 0.700 0
dbSNP: rs1131691050
rs1131691050
1 1 17024005 frameshift variant -/GTTCC delins 0.700 0
dbSNP: rs1131691051
rs1131691051
1 1 17033108 missense variant T/C snv 0.700 0
dbSNP: rs1131691053
rs1131691053
1 1 17024009 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691054
rs1131691054
1 1 17033068 missense variant C/A snv 0.700 0
dbSNP: rs1131691057
rs1131691057
1 1 17053948 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691059
rs1131691059
1 1 17024011 frameshift variant TCCACCAGTA/CC delins 0.700 0
dbSNP: rs1553177292
rs1553177292
1 1 17022731 splice acceptor variant C/T snv 0.700 0
dbSNP: rs587782904
rs587782904
1 1 17033143 missense variant C/T snv 0.700 0
dbSNP: rs794728949
rs794728949
1 1 17027808 frameshift variant C/- delins 0.700 0
dbSNP: rs876658451
rs876658451
1 1 17027844 stop gained G/A snv 0.700 0
dbSNP: rs876659491
rs876659491
1 1 17027847 frameshift variant C/- del 0.700 0
dbSNP: rs876660368
rs876660368
1 1 17023967 splice donor variant CCTCACC/- del 0.700 0
dbSNP: rs916516745
rs916516745
1 1 17022719 stop gained C/T snv 0.700 0