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: rs10859313
rs10859313 		1 12 92411657 regulatory region variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4947296
rs4947296 		5 0.851 0.440 6 31090401 intergenic variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs727504379
rs727504379
ACTC1 ; LOC101928174
2 1.000 0.040 15 34791238 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
2 15 34792471 missense variant G/A snv 0.700 0
dbSNP: rs397517071
rs397517071
ACTC1 ; LOC101928174
2 1.000 0.040 15 34792092 missense variant A/G snv 0.700 0
dbSNP: rs1407369744
rs1407369744
ACTN2
2 1.000 0.080 1 236739384 missense variant T/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs727502886
rs727502886
ACTN2
3 0.925 0.040 1 236719007 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs7597774
rs7597774
ADD2
1 2 70716718 intron variant A/C snv 0.49 0.700 1.000 1 2010 2010
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2002 2002
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
10 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
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 2007 2007
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs397516881
rs397516881
BAG3
7 0.827 0.120 10 119676917 missense variant G/A snv 0.710 1.000 4 2011 2017
dbSNP: rs869248137
rs869248137
BAG3
4 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs387906875
rs387906875
BAG3
3 0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs727505109
rs727505109
BAG3
2 1.000 10 119676617 frameshift variant C/- delins 0.700 1.000 2 2011 2011
dbSNP: rs1554875409
rs1554875409
BAG3
1 10 119651752 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs2234962
rs2234962
BAG3
3 1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 0.800 1.000 1 2011 2011
dbSNP: rs1564773559
rs1564773559
BAG3
1 10 119669920 frameshift variant -/TGTGTAC delins 0.700 0
dbSNP: rs727502897
rs727502897
BAG3
1 10 119651742 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs727505283
rs727505283
BAG3
1 10 119651774 frameshift variant ACCGGCTG/- delins 0.700 0
dbSNP: rs730880055
rs730880055
BAG3
1 10 119676851 stop gained C/T snv 0.700 0
dbSNP: rs869025365
rs869025365
BAG3
1 10 119672657 splice donor variant G/A snv 0.700 0
dbSNP: rs876657634
rs876657634
BAG3
3 0.925 0.080 10 119672477 stop gained C/T snv 0.700 0