Source: ALL
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: rs1561704475
rs1561704475
DSP
2 0.925 0.120 6 7585133 frameshift variant CA/- delins 0.700 1.000 2 2011 2017
dbSNP: rs886039343
rs886039343
DSP
2 0.925 0.120 6 7555815 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 2 2010 2014
dbSNP: rs1487814687
rs1487814687
DSP
2 0.925 0.120 6 7582927 frameshift variant GAGA/-;GA delins 0.700 1.000 1 2000 2000
dbSNP: rs1554106742
rs1554106742
DSP
2 0.925 0.120 6 7567802 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs1554108621
rs1554108621
DSP
2 0.925 0.120 6 7582812 frameshift variant ACAGCGCC/GTG delins 0.700 1.000 1 2000 2000
dbSNP: rs774763657
rs774763657
DSP
2 0.925 0.120 6 7582941 frameshift variant AGTC/- delins 1.2E-05 0.700 1.000 1 2000 2000
dbSNP: rs794728124
rs794728124
DSP
2 0.925 0.120 6 7581402 stop gained C/T snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1194358112
rs1194358112
DSP
2 0.925 0.120 6 7584502 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0
dbSNP: rs1267435790
rs1267435790
DSP
2 0.925 0.120 6 7570444 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs1394836623
rs1394836623
DSP
2 0.925 0.120 6 7581511 frameshift variant AGAG/-;AG delins 1.4E-05 0.700 0
dbSNP: rs1554108050
rs1554108050
DSP
2 0.925 0.120 6 7579431 stop gained G/T snv 0.700 0
dbSNP: rs1554108609
rs1554108609
DSP
2 0.925 0.120 6 7582719 frameshift variant -/A delins 0.700 0
dbSNP: rs1561680649
rs1561680649
DSP
2 0.925 0.120 6 7558171 stop gained GT/AA mnv 0.700 0
dbSNP: rs1561687796
rs1561687796
DSP
2 0.925 0.120 6 7568448 frameshift variant -/A delins 0.700 0
dbSNP: rs1561693779
rs1561693779
DSP
2 0.925 0.120 6 7575355 stop gained C/T snv 0.700 0
dbSNP: rs1561694696
rs1561694696
DSP
2 0.925 0.120 6 7576388 stop gained C/T snv 0.700 0
dbSNP: rs1561696970
rs1561696970
DSP
2 0.925 0.120 6 7579316 frameshift variant AC/T delins 0.700 0
dbSNP: rs1561697181
rs1561697181
DSP
2 0.925 0.120 6 7579479 frameshift variant -/TA delins 0.700 0
dbSNP: rs1561698362
rs1561698362
DSP
3 0.925 0.120 6 7580225 frameshift variant ATGAA/- delins 0.700 0
dbSNP: rs1561698750
rs1561698750
DSP
2 0.925 0.120 6 7580547 stop gained C/T snv 0.700 0
dbSNP: rs1561702771
rs1561702771
DSP
2 0.925 0.120 6 7583843 frameshift variant CA/- delins 0.700 0
dbSNP: rs28763965
rs28763965
DSP
3 0.925 0.120 6 7580562 stop gained C/A;G;T snv 8.0E-06; 1.7E-03; 4.0E-06 0.700 0
dbSNP: rs606231295
rs606231295
DSP
2 0.925 0.120 6 7570553 missense variant C/T snv 0.700 0
dbSNP: rs770873593
rs770873593
DSP
2 0.925 0.120 6 7580388 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0