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: 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: rs2281298
rs2281298
SAMM50
1 1.000 22 43995354 intron variant G/A snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs2294916
rs2294916
PNPLA3
1 1.000 22 43945042 intron variant T/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2294922
rs2294922
SAMM50
1 1.000 22 43983685 intron variant G/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs2401514
rs2401514
SAMM50 ; PARVB
1 1.000 22 43998139 intron variant T/A snv 0.20 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: rs3827385
rs3827385
SAMM50
1 1.000 22 43992937 intron variant T/C snv 0.21 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
dbSNP: rs4823179
rs4823179
PNPLA3
1 1.000 22 43945313 intron variant T/C snv 0.20 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: rs6006468
rs6006468
SAMM50
1 1.000 22 43987552 non coding transcript exon variant G/C snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs6006469
rs6006469
SAMM50
1 1.000 22 43987737 non coding transcript exon variant C/G snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs6006473
rs6006473
SAMM50 ; PARVB
2 0.925 0.040 22 43997195 intron variant C/T snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs6006602
rs6006602
SAMM50
1 1.000 22 43987520 non coding transcript exon variant C/T snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs6601299
rs6601299
LOC157273
5 0.925 0.040 8 9327181 intron variant T/C snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs738408
rs738408
PNPLA3
10 0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 0.700 1.000 1 2013 2013
dbSNP: rs926633
rs926633
PNPLA3
1 1.000 22 43941653 intron variant G/A snv 0.20 0.700 1.000 1 2013 2013
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: 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: 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: 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: 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