Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs651007 0.851 0.160 9 133278431 upstream gene variant T/A;C snv 22
rs17342717
SLC17A1
6 25821542 intron variant C/T snv 6.1E-02 8
rs217181
TXNL4B
16 72080103 intron variant C/T snv 0.20 6
rs5742933
ORMDL1 ; PMS1
0.882 0.080 2 189784590 5 prime UTR variant G/A;C snv 5
rs744653 2 189514024 regulatory region variant C/T snv 0.84 4
rs9302635
DHX38
16 72110275 intron variant T/C;G snv 4
rs987710
IGLV10-54
1.000 0.040 22 22158022 intron variant G/A snv 0.61 4
rs10064177 5 4439147 non coding transcript exon variant G/A snv 0.58 2
rs191752533 7 16788068 downstream gene variant T/G snv 3.8E-03 2
rs74450770 16 66237397 intergenic variant T/C snv 7.2E-03 2
rs760719 22 37064409 downstream gene variant C/T snv 0.34 2
rs9465627 6 10233702 intergenic variant T/G snv 6.5E-03 2
rs113036595
CLDN10 ; CLDN10-AS1
13 95480065 intron variant T/- del 0.46 2
rs17415853
EPS8
12 15777871 intron variant T/C snv 2.0E-02 2
rs145811080
LHPP
10 124459913 upstream gene variant G/A snv 6.7E-03 2
rs76858924
LOC105374986
6 26261299 intergenic variant C/A;T snv 2
rs5743077
PMS1
2 189832613 intron variant G/A;C snv 2
rs411988
TEX14 ; LOC105371842
17 58631673 non coding transcript exon variant G/A;C snv 2