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: rs80338682
rs80338682
3 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 20 2002 2019
dbSNP: rs767671406
rs767671406
2 1.000 0.080 17 17216506 splice region variant GGA/- delins 0.700 1.000 7 2000 2017
dbSNP: rs879255678
rs879255678
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 1.000 6 2005 2017
dbSNP: rs1064793128
rs1064793128
2 1.000 0.080 17 17215237 frameshift variant GA/- delins 0.700 1.000 5 2005 2016
dbSNP: rs137852929
rs137852929
3 0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05 0.700 1.000 4 2002 2013
dbSNP: rs755959303
rs755959303
2 1.000 0.080 17 17215184 splice donor variant C/G;T snv 4.0E-06 0.700 1.000 2 2008 2016
dbSNP: rs786202541
rs786202541
1 17 17216465 stop gained G/C snv 0.700 1.000 2 2008 2017
dbSNP: rs864622651
rs864622651
2 1.000 0.080 17 17216428 frameshift variant G/- delins 0.700 1.000 2 2008 2014
dbSNP: rs879255677
rs879255677
2 1.000 0.080 17 17215282 frameshift variant -/GCGGCTGCGTGGACCTC delins 0.700 1.000 2 2008 2011
dbSNP: rs1131690835
rs1131690835
1 17 17215190 frameshift variant -/C delins 0.700 1.000 1 2005 2005
dbSNP: rs398124524
rs398124524
2 1.000 0.080 17 17217128 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs398124527
rs398124527
2 1.000 0.080 17 17215312 frameshift variant A/- delins 0.700 1.000 1 2005 2005
dbSNP: rs1131690827
rs1131690827
1 17 17213811 frameshift variant G/- delins 0.700 0
dbSNP: rs1131690828
rs1131690828
1 17 17215265 frameshift variant G/- delins 0.700 0
dbSNP: rs1131690829
rs1131690829
1 17 17215313 splice acceptor variant -/AC delins 0.700 0
dbSNP: rs1131690831
rs1131690831
1 17 17217142 frameshift variant -/GTGCC delins 0.700 0
dbSNP: rs1131690837
rs1131690837
2 1.000 0.080 17 17216466 frameshift variant -/A delins 0.700 0
dbSNP: rs1131690841
rs1131690841
1 17 17215254 frameshift variant CCCCACA/- delins 0.700 0
dbSNP: rs1555607640
rs1555607640
1 17 17216392 frameshift variant -/TG delins 0.700 0
dbSNP: rs1555607929
rs1555607929
1 17 17217068 splice donor variant C/A snv 0.700 0
dbSNP: rs1555607960
rs1555607960
1 17 17217092 frameshift variant G/- delins 0.700 0
dbSNP: rs398124525
rs398124525
2 1.000 0.080 17 17216501 frameshift variant G/- delins 0.700 0
dbSNP: rs398124528
rs398124528
2 1.000 0.080 17 17215092 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs786202475
rs786202475
1 17 17215064 stop gained C/A snv 0.700 0
dbSNP: rs879255676
rs879255676
2 1.000 0.080 17 17216379 splice donor variant C/T snv 0.700 0