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: 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: rs2281292
rs2281292
SAMM50 ; PARVB
1 1.000 22 43999509 intron variant A/C snv 0.44 0.47 0.700 1.000 1 2013 2013
dbSNP: rs2228530
rs2228530
PPP1CB
1 1.000 2 28778825 missense variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2645424
rs2645424
FDFT1
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2018 2018
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: rs1010022
rs1010022
PNPLA3
1 1.000 22 43940430 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs1461729
rs1461729
LOC157273
5 1.000 8 9329732 intron variant A/G snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs2072906
rs2072906
PNPLA3
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2073079
rs2073079
SAMM50
1 1.000 22 43989714 intron variant A/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs3761472
rs3761472
SAMM50
2 0.925 0.040 22 43972242 missense variant A/G snv 0.21 0.18 0.700 1.000 1 2013 2013
dbSNP: rs3788604
rs3788604
SAMM50
1 1.000 22 43992537 intron variant A/G snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs4823182
rs4823182
SAMM50
2 0.925 0.080 22 43981562 intron variant A/G snv 0.46 0.700 1.000 1 2013 2013
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: 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: 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: rs4674344
rs4674344
CYP27A1
1 1.000 2 218805152 intron variant A/T snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs12597002
rs12597002
CETP
3 1.000 16 56968492 intron variant C/A snv 0.25 0.010 1.000 1 2012 2012
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: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs2076211
rs2076211
PNPLA3
3 1.000 22 43933198 intron variant C/A;T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 29 2010 2019
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2005 2005
dbSNP: rs2072907
rs2072907
PNPLA3
3 0.882 0.120 22 43936773 intron variant C/G snv 0.20 0.700 1.000 1 2013 2013