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: rs34557412
rs34557412
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.800 1.000 13 2005 2016
dbSNP: rs104894649
rs104894649
2 0.925 0.040 17 16940352 missense variant C/T snv 8.0E-04 7.5E-04 0.800 1.000 1 2005 2005
dbSNP: rs72553883
rs72553883
5 0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03 0.700 1.000 9 2005 2013
dbSNP: rs72553875
rs72553875
1 1.000 17 16948978 frameshift variant -/T delins 4.0E-06; 4.1E-04 3.0E-04 0.700 1.000 7 2005 2016
dbSNP: rs769165409
rs769165409
1 1.000 17 16940384 frameshift variant -/T delins 2.0E-05 0.700 1.000 2 2009 2013
dbSNP: rs72553882
rs72553882
2 0.925 0.080 17 16940465 stop gained G/C;T snv 4.0E-05 0.700 1.000 1 2009 2009
dbSNP: rs104894650
rs104894650
1 1.000 17 16948752 stop gained G/A;C;T snv 5.2E-05; 5.6E-05; 1.2E-05 0.700 0
dbSNP: rs121908379
rs121908379
2 0.925 0.040 17 16940375 stop gained GG/CC;TT mnv 0.700 0
dbSNP: rs1555550717
rs1555550717
1 1.000 17 16972027 frameshift variant G/- delins 0.700 0