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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2009 2013
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.040 1.000 4 2009 2013
dbSNP: rs1239936594
rs1239936594
1 9 128180461 missense variant G/A snv 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1252185897
rs1252185897
2 1.000 18 11868596 stop gained C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs143888944
rs143888944
2 1.000 0.040 18 8636322 missense variant A/G snv 3.3E-04 4.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs149427020
rs149427020
2 1.000 0.040 18 8636256 missense variant G/A snv 4.5E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs2296793
rs2296793
1 9 129822779 synonymous variant G/A snv 0.22 0.23 0.010 < 0.001 1 2016 2016
dbSNP: rs371288995
rs371288995
2 1.000 0.040 18 8636278 missense variant G/A snv 5.6E-05 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs3842225
rs3842225
6 0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 0.010 < 0.001 1 2016 2016
dbSNP: rs529094238
rs529094238
1 9 129822640 missense variant C/T snv 7.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs533268185
rs533268185
2 1.000 0.040 3 196068103 missense variant T/C snv 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs769617030
rs769617030
2 1.000 0.040 2 227491553 synonymous variant A/T snv 4.9E-06 0.010 1.000 1 2017 2017
dbSNP: rs770304347
rs770304347
2 1.000 0.040 3 196062895 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017