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: rs137853264
rs137853264
1 1.000 0.160 X 54465522 missense variant C/T snv 0.800 1.000 4 2000 2011
dbSNP: rs28935497
rs28935497
1 1.000 0.160 X 54456233 missense variant C/T snv 0.800 1.000 4 2000 2011
dbSNP: rs137853265
rs137853265
2 0.925 0.200 X 54467901 missense variant C/T snv 7.9E-06 9.5E-06 0.710 1.000 1 2005 2005
dbSNP: rs1269514277
rs1269514277
1 1.000 0.160 X 54446267 stop gained G/A snv 0.700 0
dbSNP: rs137853266
rs137853266
2 0.925 0.160 X 54467796 missense variant C/A;T snv 0.700 0
dbSNP: rs137853267
rs137853267
2 0.925 0.200 X 54465797 missense variant T/C snv 0.700 0
dbSNP: rs1557189455
rs1557189455
1 1.000 0.160 X 54467883 missense variant G/A snv 0.700 0
dbSNP: rs1557189608
rs1557189608
1 1.000 0.160 X 54470224 frameshift variant -/A delins 0.700 0
dbSNP: rs1557191567
rs1557191567
1 1.000 0.160 X 54495155 frameshift variant -/A delins 0.700 0
dbSNP: rs1569541255
rs1569541255
1 1.000 0.160 X 54470172 frameshift variant -/G delins 0.700 0
dbSNP: rs387906718
rs387906718
1 1.000 0.160 X 54455497 stop gained G/A snv 0.700 0
dbSNP: rs756586058
rs756586058
2 1.000 0.160 X 54470715 frameshift variant G/-;GG delins 0.700 0