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: rs6203
rs6203
HSD3B1
4 0.851 0.120 1 119514535 synonymous variant C/T snv 0.45 0.35 0.010 1.000 1 2010 2010
dbSNP: rs1047303
rs1047303
HSD3B1
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs2336384
rs2336384
MFN2
2 1.000 0.040 1 11986006 intron variant G/T snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs2236057
rs2236057
MFN2
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 1.000 1 2016 2016
dbSNP: rs2236058
rs2236058
MFN2
2 1.000 0.040 1 12002304 intron variant C/A;G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs3766741
rs3766741
MFN2
1 1.000 0.040 1 12011376 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2013 2017
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2013 2017
dbSNP: rs4135352
rs4135352
PPARG
2 0.925 0.120 3 12416709 missense variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs3856806
rs3856806
PPARG
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 < 0.001 1 2013 2013
dbSNP: rs11221497
rs11221497
KCNJ5
3 0.882 0.120 11 128890715 upstream gene variant G/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs2604204
rs2604204
KCNJ5
3 0.882 0.120 11 128917535 3 prime UTR variant G/T snv 0.74 0.020 1.000 2 2013 2017
dbSNP: rs2235312
rs2235312
APLN
3 0.882 0.160 X 129653118 intron variant A/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3761581
rs3761581
APLN
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.020 0.500 2 2010 2016
dbSNP: rs56204867
rs56204867
APLN
3 0.925 0.040 X 129656490 upstream gene variant A/G snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.010 1.000 1 2015 2015
dbSNP: rs2781666
rs2781666
ARG1
8 0.790 0.280 6 131572419 intron variant G/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs2781667
rs2781667
ARG1 ; MED23
4 0.851 0.080 6 131574004 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1212768461
rs1212768461
TSC1
2 1.000 0.040 9 132897292 missense variant T/A;C snv 1.4E-05 0.020 1.000 2 2008 2012
dbSNP: rs1320206988
rs1320206988
TSC1
2 1.000 0.040 9 132910585 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs7444370
rs7444370
KLHL3
1 1.000 0.040 5 137620994 3 prime UTR variant C/T snv 0.11 0.010 < 0.001 1 2019 2019
dbSNP: rs2301708
rs2301708
KLHL3
1 1.000 0.040 5 137634104 synonymous variant C/T snv 0.22 0.17 0.010 < 0.001 1 2019 2019
dbSNP: rs12502572
rs12502572
UCP1
1 1.000 0.040 4 140563980 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1800592
rs1800592 		8 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 0.010 1.000 1 2019 2019