Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs1800624
PBX2 ; AGER
0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs12447924
CETP
1.000 16 56960280 upstream gene variant C/T snv 0.76 3
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs2071303
LOC108783645 ; HFE
0.882 0.120 6 26091108 splice region variant T/C snv 0.38 0.36 6
rs3480
FNDC5
0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 8
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 14
rs738408
PNPLA3
0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 10
rs72563732
ADIPOQ-AS1 ; ADIPOQ
0.882 0.040 3 186854563 synonymous variant C/T snv 6.4E-05 2.6E-04 3
rs6006468
SAMM50
1.000 22 43987552 non coding transcript exon variant G/C snv 0.48 1
rs6006469
SAMM50
1.000 22 43987737 non coding transcript exon variant C/G snv 0.49 1
rs6006602
SAMM50
1.000 22 43987520 non coding transcript exon variant C/T snv 0.48 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs58542926
TM6SF2
0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 42
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 40
rs1800206
PPARA
0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 35
rs8192678
PPARGC1A
0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 28
rs641738
LOC112268246 ; TMC4 ; MBOAT7
0.689 0.320 19 54173068 missense variant T/A;C;G snv 22