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: rs1554108859
rs1554108859
DSP
2 0.925 0.120 6 7583727 frameshift variant -/A delins 0.700 1.000 2 2013 2017
dbSNP: rs1554108609
rs1554108609
DSP
2 0.925 0.120 6 7582719 frameshift variant -/A delins 0.700 0
dbSNP: rs1561687796
rs1561687796
DSP
2 0.925 0.120 6 7568448 frameshift variant -/A delins 0.700 0
dbSNP: rs1554108152
rs1554108152
DSP
4 0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 0.700 0
dbSNP: rs794728148
rs794728148
DSP
2 0.925 0.120 6 7583772 frameshift variant -/CT ins 0.700 0
dbSNP: rs794728137
rs794728137
DSP
6 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 1.000 2 2015 2017
dbSNP: rs1561697181
rs1561697181
DSP
2 0.925 0.120 6 7579479 frameshift variant -/TA delins 0.700 0
dbSNP: rs1561703363
rs1561703363
DSP
2 0.925 0.120 6 7584337 frameshift variant A/- del 0.700 1.000 2 2011 2017
dbSNP: rs1554106742
rs1554106742
DSP
2 0.925 0.120 6 7567802 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs1554106830
rs1554106830
DSP
2 0.925 0.120 6 7568435 splice acceptor variant A/G snv 0.700 1.000 3 2010 2015
dbSNP: rs113726158
rs113726158
DSP
2 0.925 0.120 6 7565357 splice acceptor variant A/G;T snv 0.700 1.000 3 2010 2015
dbSNP: rs1561696970
rs1561696970
DSP
2 0.925 0.120 6 7579316 frameshift variant AC/T delins 0.700 0
dbSNP: rs1554108621
rs1554108621
DSP
2 0.925 0.120 6 7582812 frameshift variant ACAGCGCC/GTG delins 0.700 1.000 1 2000 2000
dbSNP: rs1394836623
rs1394836623
DSP
2 0.925 0.120 6 7581511 frameshift variant AGAG/-;AG delins 1.4E-05 0.700 0
dbSNP: rs1554108410
rs1554108410
DSP
3 0.882 0.120 6 7581072 frameshift variant AGGAG/TTCT delins 0.700 0
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: rs1561698362
rs1561698362
DSP
3 0.925 0.120 6 7580225 frameshift variant ATGAA/- 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: rs141026028
rs141026028
DSP
2 0.925 0.120 6 7583758 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 5 2011 2017
dbSNP: rs746877365
rs746877365
DSP
3 0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-06 0.700 1.000 4 2008 2013
dbSNP: rs397516943
rs397516943
DSP
4 0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 0.700 1.000 1 2013 2013
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: rs730880082
rs730880082
DSP
3 0.882 0.120 6 7576986 stop gained C/G;T snv 0.700 0
dbSNP: rs1554108012
rs1554108012
DSP
4 0.882 0.120 6 7579323 stop gained C/T snv 0.700 1.000 3 2005 2014