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: rs137853310
rs137853310
2 0.925 0.080 X 154367920 stop gained G/A snv 0.700 0
dbSNP: rs1557178535
rs1557178535
4 0.851 0.120 X 154363633 intron variant A/T snv 0.700 0
dbSNP: rs1557179325
rs1557179325
4 0.925 0.080 X 154366562 splice region variant C/T snv 0.700 0
dbSNP: rs370490152
rs370490152
1 1.000 0.080 X 154366582 stop gained C/A;T snv 3.3E-05 0.700 0
dbSNP: rs398122812
rs398122812
2 0.925 0.080 X 154348897 stop gained C/T snv 0.700 0
dbSNP: rs398123620
rs398123620
1 1.000 0.080 X 154359010 frameshift variant -/AT delins 0.700 0
dbSNP: rs786205177
rs786205177
1 1.000 0.080 X 154365487 splice acceptor variant C/A snv 0.700 0
dbSNP: rs786205178
rs786205178
1 1.000 0.080 X 154352312 frameshift variant ACTG/- delins 0.700 0
dbSNP: rs786205180
rs786205180
1 1.000 0.080 X 154366562 frameshift variant CTTAT/- del 0.700 0
dbSNP: rs786205181
rs786205181
1 1.000 0.080 X 154371109 frameshift variant T/- del 0.700 0
dbSNP: rs786205182
rs786205182
1 1.000 0.080 X 154364927 stop gained A/T snv 0.700 0
dbSNP: rs786205183
rs786205183
1 1.000 0.080 X 154364721 splice acceptor variant T/C snv 0.700 0
dbSNP: rs786205186
rs786205186
5 0.827 0.120 X 154362417 splice donor variant C/G;T snv 0.700 0
dbSNP: rs786205188
rs786205188
1 1.000 0.080 X 154360266 frameshift variant C/- delins 0.700 0
dbSNP: rs786205189
rs786205189
1 1.000 0.080 X 154359822 frameshift variant -/ACGGGCCTTGACGT delins 0.700 0
dbSNP: rs786205190
rs786205190
1 1.000 0.080 X 154359635 coding sequence variant -/TCCTGGAGGAGTGCAG delins 0.700 0
dbSNP: rs786205191
rs786205191
1 1.000 0.080 X 154359620 frameshift variant C/- del 0.700 0
dbSNP: rs786205194
rs786205194
1 1.000 0.080 X 154358336 frameshift variant GC/- del 0.700 0
dbSNP: rs786205197
rs786205197
1 1.000 0.080 X 154357444 stop gained G/T snv 0.700 0
dbSNP: rs786205198
rs786205198
1 1.000 0.080 X 154357436 frameshift variant G/- del 0.700 0
dbSNP: rs786205199
rs786205199
1 1.000 0.080 X 154355020 frameshift variant CA/- delins 0.700 0
dbSNP: rs786205201
rs786205201
1 1.000 0.080 X 154352795 frameshift variant TT/- del 0.700 0
dbSNP: rs786205202
rs786205202
1 1.000 0.080 X 154352370 stop gained C/A snv 0.700 0
dbSNP: rs786205203
rs786205203
1 1.000 0.080 X 154367532 frameshift variant -/G delins 0.700 0
dbSNP: rs786205204
rs786205204
1 1.000 0.080 X 154366731 splice donor variant C/T snv 0.700 0