Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12633508 3 88765985 intergenic variant T/C snv 0.23 1
rs1571138 1 46429969 upstream gene variant A/G snv 0.73 1
rs17122021 11 118274971 regulatory region variant C/A;T snv 1
rs17289394 13 46899085 upstream gene variant G/A snv 0.33 1
rs2383515 1 186683820 upstream gene variant G/A;T snv 1
rs398655 13 33013514 upstream gene variant A/C snv 0.51 1
rs4660928 1 46420268 TF binding site variant A/C snv 0.63 1
rs7335912 13 95015426 upstream gene variant A/G snv 0.16 1
rs73633565 X 13459192 intergenic variant A/G snv 0.14 1
rs2756109
ABCC2
10 99798989 intron variant G/T snv 0.53 1
rs4584690
ABCC4
13 95027878 intron variant T/C;G snv 1
rs4512126
ABLIM3
5 149166179 intron variant T/A;C snv 1
rs12654778
ADRB2
5 148826178 5 prime UTR variant G/A snv 0.34 1
rs887200
ARVCF
22 19976143 intron variant C/T snv 0.74 1
rs179971
ATXN1
6 16362511 intron variant C/T snv 0.66 1
rs7718461
CRHBP
5 76962223 intron variant A/G snv 0.51 1
rs2070697
CTSG
14 24574883 non coding transcript exon variant C/T snv 0.26 1
rs2236742
CTSG
14 24575924 intron variant C/T snv 0.15 1
rs80026734
CYP3A5 ; ZSCAN25
7 99676132 missense variant C/T snv 1
rs1277774683
DNM2
19 10830162 missense variant A/C snv 4.0E-06 2.1E-05 1
rs6827096
EDNRA
4 147514294 intron variant C/T snv 0.30 1
rs1172682117
ERG
21 38403690 synonymous variant T/G snv 4.0E-06 1
rs2211843
KCNJ6
21 37811882 intron variant G/C;T snv 1
rs3212361
MC1R
16 89918814 5 prime UTR variant G/A snv 0.34 1
rs72520913
MMP3
11 102845217 upstream gene variant -/C;G ins 1