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: 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: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 1.000 2 2018 2019
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: rs1007863
rs1007863
SAMM50 ; PARVB
1 1.000 22 43999571 missense variant T/A;C snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs12483959
rs12483959
PNPLA3
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 1 2013 2013
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: rs1977081
rs1977081
PNPLA3
2 1.000 22 43934248 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2072905
rs2072905
PNPLA3
1 1.000 22 43937599 intron variant C/G;T snv 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: rs2290602
rs2290602
PPARGC1A
3 0.882 0.040 4 23824109 intron variant T/A;G snv 0.010 1.000 1 2008 2008
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: rs951599607
rs951599607
PPARG
4 0.925 0.040 3 12434028 missense variant G/A snv 0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.050 1.000 5 2015 2017
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: rs11090617
rs11090617
PNPLA3
1 1.000 22 43930820 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013
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: rs4823173
rs4823173
PNPLA3
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.700 1.000 1 2013 2013