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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2007 2008
dbSNP: rs12743824
rs12743824 		2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs3480
rs3480
FNDC5
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs903361
rs903361
ADORA1
4 0.882 0.160 1 203122146 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.020 1.000 2 2013 2014
dbSNP: rs2228530
rs2228530
PPP1CB
1 1.000 2 28778825 missense variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4674344
rs4674344
CYP27A1
1 1.000 2 218805152 intron variant A/T snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs72563732
rs72563732
ADIPOQ ; ADIPOQ-AS1
3 0.882 0.040 3 186854563 synonymous variant C/T snv 6.4E-05 2.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs7643645
rs7643645
NR1I2
3 0.882 0.080 3 119806650 intron variant A/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs951599607
rs951599607
PPARG
4 0.925 0.040 3 12434028 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
dbSNP: rs2290602
rs2290602
PPARGC1A
3 0.882 0.040 4 23824109 intron variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2016 2016
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.060 1.000 6 1998 2012
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 1999 2012
dbSNP: rs1572982
rs1572982
HFE
7 0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
6 0.882 0.120 6 26091108 splice region variant T/C snv 0.38 0.36 0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs10499563
rs10499563
STEAP1B
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1461729
rs1461729
LOC157273
5 1.000 8 9329732 intron variant A/G snv 0.88 0.700 1.000 1 2013 2013