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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs868435969
rs868435969
VCP
3 0.925 0.280 9 35066710 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs869312873
rs869312873
5 0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs778361520
rs778361520
9 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs2229616
rs2229616
22 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs6136
rs6136
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1130233
rs1130233
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2014 2014