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: rs915012109
rs915012109
SMYD1
3 0.925 0.040 2 88096710 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587782343
rs587782343
PTEN
4 0.851 0.200 10 87933073 missense variant G/A snv 0.020 1.000 2 2011 2017
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs116840799
rs116840799
CAV3 ; SSUH2
2 1.000 0.040 3 8745599 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs754945616
rs754945616
RASA1
3 0.882 0.120 5 87268639 missense variant G/T snv 4.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs201786090
rs201786090
LDB3
1 1.000 0.040 10 86679433 missense variant G/A snv 3.2E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs745688425
rs745688425
ALPK3
1 1.000 0.040 15 84858461 frameshift variant C/- delins 1.1E-05 7.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs200889953
rs200889953
ALPK3
1 1.000 0.040 15 84839087 stop gained C/T snv 0.700 1.000 3 2012 2016
dbSNP: rs1057517105
rs1057517105
GAA
3 0.882 0.160 17 80112655 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs796051877
rs796051877
GAA
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs778924284
rs778924284
NFATC1
1 1.000 0.040 18 79411107 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs772862308
rs772862308
NFATC1
1 1.000 0.040 18 79410582 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1316189390
rs1316189390
HCN4 ; LOC105370890
2 1.000 0.040 15 73343594 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1419256494
rs1419256494
INSR
3 0.882 0.280 19 7142938 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2013 2017
dbSNP: rs371010069
rs371010069
ACE
1 1.000 0.040 17 63486654 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs748196768
rs748196768
TPM1
1 1.000 0.040 15 63071117 missense variant A/G snv 2.8E-05 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs199476322
rs199476322
TPM1
2 0.925 0.040 15 63064141 missense variant A/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199476321
rs199476321
TPM1
3 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.020 1.000 2 2019 2019
dbSNP: rs199476320
rs199476320
TPM1
3 0.925 0.040 15 63064121 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs727503518
rs727503518
TPM1
1 1.000 0.040 15 63062230 missense variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1555409659
rs1555409659
TPM1
1 1.000 0.040 15 63062214 splice acceptor variant TACTCG/- delins 0.700 0
dbSNP: rs397516486
rs397516486
TPM1
1 1.000 0.040 15 63061758 missense variant C/G snv 0.700 1.000 1 2004 2004