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: rs727503000
rs727503000
DSP
2 1.000 0.080 6 7579663 frameshift variant -/A delins 0.700 1.000 3 2010 2016
dbSNP: rs727503003
rs727503003
DSP
2 1.000 0.080 6 7581012 frameshift variant -/A delins 0.700 1.000 3 2010 2011
dbSNP: rs397516956
rs397516956
DSP
1 6 7562762 frameshift variant -/A delins 0.700 1.000 2 2000 2006
dbSNP: rs397517750
rs397517750
1 2 178552121 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs397516927
rs397516927
DSP
1 6 7577007 frameshift variant -/A delins 0.700 0
dbSNP: rs397516945
rs397516945
DSP
1 6 7559337 frameshift variant -/A ins 0.700 0
dbSNP: rs397517245
rs397517245
VCL
1 10 74074773 frameshift variant -/A delins 0.700 0
dbSNP: rs752856716
rs752856716
1 2 178632349 frameshift variant -/A delins 1.3E-05 0.700 0
dbSNP: rs755261062
rs755261062
1 2 178592593 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs869025552
rs869025552
1 2 178602411 frameshift variant -/A delins 0.700 0
dbSNP: rs869025557
rs869025557
1 2 178576604 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs869312082
rs869312082
1 2 178552577 frameshift variant -/A ins 0.700 0
dbSNP: rs869312122
rs869312122
2 1.000 0.120 2 178535516 frameshift variant -/A ins 0.700 0
dbSNP: rs876657673
rs876657673
1 2 178739618 frameshift variant -/A delins 0.700 0
dbSNP: rs869312049
rs869312049
1 2 178609274 frameshift variant -/AA delins 0.700 0
dbSNP: rs1554108152
rs1554108152
DSP
4 0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 0.700 0
dbSNP: rs727502994
rs727502994
DSP
1 6 7581565 splice donor variant -/AG delins 0.700 0
dbSNP: rs1553742630
rs1553742630
2 1.000 0.080 2 178633900 frameshift variant -/C ins 0.700 1.000 1 2015 2015
dbSNP: rs58013325
rs58013325
3 1.000 0.080 1 156137144 frameshift variant -/C delins 0.700 1.000 1 2005 2005
dbSNP: rs869312063
rs869312063
1 2 178553149 frameshift variant -/C delins 0.700 0
dbSNP: rs869312107
rs869312107
1 2 178618314 frameshift variant -/CA delins 0.700 0
dbSNP: rs267607646
rs267607646
2 1.000 0.080 1 156115265 frameshift variant -/G delins 0.700 1.000 1 2009 2009
dbSNP: rs730880343
rs730880343
1 2 178568710 frameshift variant -/G delins 0.700 1.000 1 2014 2014
dbSNP: rs869312083
rs869312083
1 2 178546865 frameshift variant -/G delins 0.700 0
dbSNP: rs876657666
rs876657666
3 0.925 0.160 2 178588815 frameshift variant -/G delins 0.700 0