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: rs572169
rs572169
GHSR
6 0.882 0.160 3 172447937 synonymous variant C/T snv 0.31 0.24 0.700 1.000 4 2010 2019
dbSNP: rs6060369
rs6060369
UQCC1
2 20 35319358 intron variant T/C snv 0.49 0.700 1.000 4 2008 2019
dbSNP: rs6570507
rs6570507
ADGRG6
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.700 1.000 4 2009 2019
dbSNP: rs6763931
rs6763931
ZBTB38
4 0.925 0.080 3 141383991 intron variant G/A snv 0.54 0.700 1.000 4 2008 2019
dbSNP: rs6918981
rs6918981 		2 6 34270737 intron variant G/A snv 0.69 0.700 1.000 4 2009 2019
dbSNP: rs7319045
rs7319045 		2 13 91372320 intergenic variant A/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs7652177
rs7652177
FNDC3B
2 3 172251287 missense variant C/G snv 0.54 0.61 0.700 1.000 4 2010 2019
dbSNP: rs9428104
rs9428104 		2 1 118312964 intergenic variant A/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs1043515
rs1043515
PIP4K2B
2 17 38765943 3 prime UTR variant A/G snv 0.46 0.700 1.000 3 2010 2019
dbSNP: rs10906982
rs10906982
ADAMTSL3
2 15 83899406 intron variant T/A snv 0.63 0.700 1.000 3 2008 2019
dbSNP: rs10958476
rs10958476
PLAG1
2 8 56183249 intron variant T/C snv 0.16 0.700 1.000 3 2008 2014
dbSNP: rs11144688
rs11144688
PCSK5
2 9 75927370 intron variant G/A snv 9.2E-02 0.700 1.000 3 2010 2014
dbSNP: rs11658329
rs11658329
MAP3K3 ; STRADA ; LOC101927898
2 17 63685671 intron variant G/C snv 0.39 0.700 1.000 3 2011 2019
dbSNP: rs1265097
rs1265097
PSORS1C1 ; PSORS1C2
1 6 31138682 missense variant C/A;T snv 0.13; 4.0E-06 0.700 1.000 3 2014 2019
dbSNP: rs1351394
rs1351394
HMGA2
5 12 65958046 3 prime UTR variant T/C;G snv 0.700 1.000 3 2010 2019
dbSNP: rs1415701
rs1415701
L3MBTL3
3 6 130024690 intron variant G/A snv 0.31 0.700 1.000 3 2013 2019
dbSNP: rs17511102
rs17511102
CDC42EP3 ; LOC105374465
3 2 37733470 intron variant A/G;T snv 0.700 1.000 3 2010 2019
dbSNP: rs1787200
rs1787200
DYM
2 18 49061284 intron variant G/A snv 0.71 0.700 1.000 3 2011 2019
dbSNP: rs1884897
rs1884897 		5 20 6632185 regulatory region variant A/G;T snv 0.700 1.000 3 2014 2019
dbSNP: rs1926872
rs1926872 		2 1 184049341 upstream gene variant T/C snv 0.29 0.700 1.000 3 2015 2019
dbSNP: rs1950500
rs1950500 		2 14 24361644 upstream gene variant T/C snv 0.68 0.700 1.000 3 2010 2014
dbSNP: rs1991431
rs1991431
ZBTB38
4 3 141414608 intron variant G/A snv 0.50 0.700 1.000 3 2013 2019
dbSNP: rs2145272
rs2145272 		8 20 6645571 intergenic variant G/A;T snv 0.700 1.000 3 2010 2019
dbSNP: rs2282978
rs2282978
CDK6 ; LOC112268009
5 7 92635096 intron variant T/C snv 0.38 0.700 1.000 3 2008 2009
dbSNP: rs2780226
rs2780226 		3 6 34231315 regulatory region variant C/T snv 0.80 0.700 1.000 3 2010 2019