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: rs28358887
rs28358887
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 8994 synonymous variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs3813929
rs3813929
HTR2C
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.020 1.000 2 2007 2009
dbSNP: rs1414334
rs1414334
HTR2C
5 0.851 0.160 X 114903581 intron variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs3115757
rs3115757
APLN
3 0.925 0.120 X 129648435 intron variant C/G snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs518147
rs518147
HTR2C
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs62589000
rs62589000
RS1
1 1.000 0.080 X 18667653 intron variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 < 0.001 1 1997 1997
dbSNP: rs762890235
rs762890235
ACE2
5 0.827 0.240 X 15578220 missense variant G/T snv 3.8E-05 9.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs781854947
rs781854947
HTR2C
2 0.925 0.120 X 114906797 stop gained C/G;T snv 1.1E-05; 1.6E-05 2.9E-05 0.010 1.000 1 2004 2004
dbSNP: rs782618876
rs782618876
RENBP ; NAA10
2 0.925 0.080 X 153935333 missense variant G/A snv 3.4E-05 1.9E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 16 2008 2019
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.100 0.769 13 1997 2018
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.060 0.667 6 2001 2016
dbSNP: rs2072907
rs2072907
PNPLA3
3 0.882 0.120 22 43936773 intron variant C/G snv 0.20 0.030 0.667 3 2008 2009
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2008 2017
dbSNP: rs1329122220
rs1329122220
TBX1
1 1.000 0.080 22 19766433 missense variant C/A snv 2.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs133068
rs133068
MCHR1
1 1.000 0.080 22 40678403 upstream gene variant G/C snv 0.64 0.010 1.000 1 2005 2005
dbSNP: rs136175
rs136175
APOL1
2 0.925 0.120 22 36265520 missense variant G/A;C;T snv 0.84; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1800234
rs1800234
PPARA
6 0.807 0.240 22 46219983 missense variant T/A;C snv 4.0E-06; 1.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs201268858
rs201268858
PNPLA3
2 0.925 0.120 22 43946273 missense variant C/T snv 9.5E-05 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs2071749
rs2071749
HMOX1
2 0.925 0.120 22 35387420 intron variant A/G snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs2239785
rs2239785
APOL1
5 0.827 0.240 22 36265284 missense variant G/A snv 0.79 0.68 0.010 1.000 1 2012 2012
dbSNP: rs4823173
rs4823173
PNPLA3
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.700 1.000 1 2015 2015
dbSNP: rs5762430
rs5762430
TTC28 ; TTC28-AS1
1 1.000 0.080 22 27982484 synonymous variant A/G snv 0.21 0.21 0.800 1.000 1 2011 2011