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 0.030 0.667 3 2013 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 0.667 3 2013 2019
dbSNP: rs11655081
rs11655081
7 0.851 0.080 17 68386068 intron variant T/C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs374512193
rs374512193
4 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs750424668
rs750424668
1 1.000 0.040 9 77424057 frameshift variant GT/- delins 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs762418293
rs762418293
1 1.000 0.040 8 42838290 missense variant A/G snv 1.6E-05 6.3E-05 0.010 1.000 1 2016 2016