Source: ALL
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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2010 2010
dbSNP: rs759159766
rs759159766
IVD
1 1.000 0.080 15 40414968 frameshift variant -/G delins 1.2E-05; 8.0E-06 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs763422682
rs763422682
IVD
1 1.000 0.080 15 40418196 missense variant T/C snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs776015412
rs776015412
IVD
1 1.000 0.080 15 40410690 stop gained C/T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs796051983
rs796051983
IVD
1 1.000 0.080 15 40415412 missense variant C/T snv 8.0E-06 0.700 1.000 1 2014 2014