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: rs1553127172
rs1553127172
1 1.000 0.080 1 75761165 frameshift variant TTGAACTAGCTAGAATGAGTTA/- del 0.700 1.000 2 1994 2010
dbSNP: rs1057516463
rs1057516463
1 1.000 0.080 1 75761221 frameshift variant C/- del 0.700 0
dbSNP: rs1057516480
rs1057516480
1 1.000 0.080 1 75732860 frameshift variant T/- del 0.700 0
dbSNP: rs1325949559
rs1325949559
1 1.000 0.080 1 75728417 frameshift variant C/- del 0.700 0
dbSNP: rs747610156
rs747610156
1 1.000 0.080 1 75761160 frameshift variant G/- del 0.700 0
dbSNP: rs777998984
rs777998984
1 1.000 0.080 1 75734829 frameshift variant G/- del 1.6E-05 2.8E-05 0.700 0
dbSNP: rs786204566
rs786204566
1 1.000 0.080 1 75732879 frameshift variant -/T delins 0.700 1.000 7 2001 2012
dbSNP: rs1057517356
rs1057517356
1 1.000 0.080 1 75734833 frameshift variant AGTA/- delins 0.700 1.000 6 2004 2017
dbSNP: rs786204424
rs786204424
1 1.000 0.080 1 75733625 splice donor variant G/- delins 0.700 1.000 5 2005 2012
dbSNP: rs875989857
rs875989857
1 1.000 0.080 1 75734827 inframe deletion AAG/- delins 0.700 1.000 5 2010 2017
dbSNP: rs786204642
rs786204642
1 1.000 0.080 1 75734849 frameshift variant CTGA/- delins 0.700 1.000 4 2005 2015
dbSNP: rs387906297
rs387906297
1 1.000 0.080 1 75761276 frameshift variant TTAG/- delins 0.700 1.000 3 1992 2010
dbSNP: rs1225471006
rs1225471006
1 1.000 0.080 1 75761173 stop gained -/TAGAATGAGTTAC delins 3.2E-05 2.8E-05 0.700 1.000 2 1984 1991
dbSNP: rs1057516278
rs1057516278
1 1.000 0.080 1 75761289 frameshift variant -/G delins 0.700 1.000 1 2012 2012
dbSNP: rs1057517103
rs1057517103
1 1.000 0.080 1 75761131 frameshift variant AT/- delins 0.700 1.000 1 1997 1997
dbSNP: rs1057517179
rs1057517179
1 1.000 0.080 1 75732694 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057517411
rs1057517411
1 1.000 0.080 1 75761247 frameshift variant A/- delins 0.700 0
dbSNP: rs1319192670
rs1319192670
1 1.000 0.080 1 75732688 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs1553125264
rs1553125264
1 1.000 0.080 1 75749536 frameshift variant GCT/CC delins 0.700 0
dbSNP: rs1557457623
rs1557457623
1 1.000 0.080 1 75749504 stop gained GTGACGGAGC/TTTAA delins 0.700 0
dbSNP: rs749529577
rs749529577
1 1.000 0.080 1 75734838 frameshift variant T/- delins 4.0E-06 0.700 0
dbSNP: rs766173642
rs766173642
1 1.000 0.080 1 75732899 frameshift variant CA/-;CACA delins 4.0E-06 0.700 0
dbSNP: rs796051901
rs796051901
1 1.000 0.080 1 75750481 frameshift variant AG/- delins 0.700 0
dbSNP: rs864621963
rs864621963
1 1.000 0.080 1 75733583 inframe deletion GGATGT/- delins 0.700 0
dbSNP: rs875989860
rs875989860
1 1.000 0.080 1 75762717 frameshift variant AA/- delins 1.4E-05 0.700 0