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: rs121908377
rs121908377
3 1.000 0.120 7 114662075 missense variant G/A snv 0.810 1.000 3 2001 2017
dbSNP: rs121908378
rs121908378
2 1.000 0.120 7 114642616 stop gained C/T snv 0.710 1.000 2 2005 2012
dbSNP: rs201649896
rs201649896
1 1.000 0.120 7 114426561 missense variant A/T snv 4.3E-04 3.3E-04 0.700 1.000 1 2005 2005
dbSNP: rs761316361
rs761316361
1 1.000 0.120 7 114629883 inframe insertion ACAACAGCAGCA/-;ACAACAGCAGCAACAACAGCAGCA delins 6.3E-05 0.700 1.000 1 2005 2005
dbSNP: rs879253771
rs879253771
1 1.000 0.120 7 114652275 frameshift variant CA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs879253772
rs879253772
1 1.000 0.120 7 114659617 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs1135401820
rs1135401820
1 1.000 0.120 7 114662188 splice donor variant T/C snv 0.700 0
dbSNP: rs1178491246
rs1178491246
1 1.000 0.120 7 114658225 stop gained C/A;T snv 4.0E-06 0.700 0