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: rs199589947
rs199589947
3 0.882 0.280 3 45496316 missense variant C/A snv 3.0E-04 2.5E-04 0.800 1.000 1 2013 2013
dbSNP: rs864309642
rs864309642
1 1.000 3 45476508 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs864309643
rs864309643
1 1.000 3 45516144 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1559484149
rs1559484149
1 1.000 3 45485788 stop gained C/G snv 0.700 0
dbSNP: rs398123036
rs398123036
1 1.000 3 45516118 missense variant C/T snv 6.4E-05 1.4E-05 0.700 0
dbSNP: rs398123037
rs398123037
1 1.000 3 45485749 frameshift variant T/- delins 0.700 0
dbSNP: rs774649299
rs774649299
1 1.000 3 45516219 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs776171893
rs776171893
1 1.000 3 45417489 missense variant A/G;T snv 4.0E-06 0.700 0