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: rs587782111
rs587782111
3 1.000 0.160 2 47804946 stop gained -/A delins 0.700 1.000 5 2011 2017
dbSNP: rs1553412966
rs1553412966
2 1.000 0.160 2 47799553 stop gained -/A delins 0.700 0
dbSNP: rs267608063
rs267608063
1 1.000 0.160 2 47800748 frameshift variant -/A delins 0.700 0
dbSNP: rs267608118
rs267608118
3 1.000 0.160 2 47806453 frameshift variant -/A delins 0.700 0
dbSNP: rs587779221
rs587779221
1 1.000 0.160 2 47799798 frameshift variant -/A delins 0.700 0
dbSNP: rs587779289
rs587779289
1 1.000 0.160 2 47806314 frameshift variant -/A ins 0.700 0
dbSNP: rs587780670
rs587780670
3 1.000 0.160 2 47799772 frameshift variant -/A delins 0.700 0
dbSNP: rs63750296
rs63750296
1 1.000 0.160 2 47804990 frameshift variant -/A ins 0.700 0
dbSNP: rs876658881
rs876658881
2 1.000 0.160 2 47799501 frameshift variant -/A delins 0.700 0
dbSNP: rs63751327
rs63751327
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 8 1999 2010
dbSNP: rs1553333421
rs1553333421
2 1.000 0.160 2 47806499 frameshift variant -/A;GGA delins 0.700 0
dbSNP: rs752404604
rs752404604
3 1.000 0.160 2 47806216 frameshift variant -/AACA delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs63750523
rs63750523
2 1.000 0.160 2 47806256 inframe insertion -/AACTTG delins 0.700 0
dbSNP: rs267608127
rs267608127
1 1.000 0.160 2 47806581 frameshift variant -/AAGT delins 0.700 0
dbSNP: rs1553332996
rs1553332996
1 1.000 0.160 2 47806234 stop gained -/AATAGCAAATGCAGTTGTTAAAGAACTTG delins 0.700 0
dbSNP: rs63750262
rs63750262
1 1.000 0.160 2 47806466 stop gained -/AATG delins 0.700 0
dbSNP: rs1558664335
rs1558664335
1 1.000 0.160 2 47800105 stop gained -/ATA delins 0.700 0
dbSNP: rs1553333738
rs1553333738
3 1.000 0.160 2 47806628 frameshift variant -/ATCA delins 0.700 1.000 3 2010 2014
dbSNP: rs267608124
rs267608124
1 1.000 0.160 2 47806634 frameshift variant -/ATCA ins 0.700 0
dbSNP: rs587779295
rs587779295
2 1.000 0.160 2 47806568 frameshift variant -/ATCTCCCA delins 0.700 0
dbSNP: rs587782562
rs587782562
3 1.000 0.160 2 47803577 stop gained -/ATGA delins 7.0E-06 0.700 1.000 4 2009 2015
dbSNP: rs267608128
rs267608128
4 0.925 0.160 2 47806496 frameshift variant -/ATTA delins 0.700 0
dbSNP: rs587779288
rs587779288
1 1.000 0.160 2 47806285 frameshift variant -/ATTA delins 0.700 0
dbSNP: rs63750357
rs63750357
1 1.000 0.160 2 47800592 frameshift variant -/ATTA delins 0.700 0
dbSNP: rs876661222
rs876661222
4 0.925 0.160 2 47806309 stop gained -/ATTA delins 0.700 0