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: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.030 1.000 3 2017 2019
dbSNP: rs121918595
rs121918595
RYR1
3 0.925 0.040 19 38580094 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
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 2019 2019