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
rs12654778
ADRB2
5 148826178 5 prime UTR variant G/A snv 0.34 1
rs1275569383
SPNS1
16 28979446 missense variant C/G snv 7.0E-06 1
rs1277774683
DNM2
19 10830162 missense variant A/C snv 4.0E-06 2.1E-05 1
rs1292843126
SPNS1
16 28975269 missense variant G/A;C snv 1.6E-05 1
rs12948783
RHBDF2
17 76503318 upstream gene variant G/A;C;T snv 1
rs1378978590
NGFR ; LOC100288866 ; MIR6165
17 49510504 stop gained C/T snv 1
rs1571138 1 46429969 upstream gene variant A/G snv 0.73 1
rs16970540
RAD51L3-RFFL ; RFFL
17 35011428 3 prime UTR variant C/T snv 0.10 1
rs17122021 11 118274971 regulatory region variant C/A;T snv 1
rs17289394 13 46899085 upstream gene variant G/A snv 0.33 1
rs179971
ATXN1
6 16362511 intron variant C/T snv 0.66 1
rs200192163
MSC-AS1 ; TRPA1
8 72036453 missense variant C/A;G snv 1.6E-05 1
rs2070697
CTSG
14 24574883 non coding transcript exon variant C/T snv 0.26 1
rs2211843
KCNJ6
21 37811882 intron variant G/C;T snv 1
rs2236742
CTSG
14 24575924 intron variant C/T snv 0.15 1
rs2383515 1 186683820 upstream gene variant G/A;T snv 1
rs2756109
ABCC2
10 99798989 intron variant G/T snv 0.53 1
rs3212361
MC1R
16 89918814 5 prime UTR variant G/A snv 0.34 1
rs3872309
NBPF1
1 16564838 missense variant C/T snv 1
rs398655 13 33013514 upstream gene variant A/C snv 0.51 1
rs4369876
SCN9A ; SCN1A-AS1
2 166272746 missense variant C/A snv 3.3E-02 1.3E-02 1
rs4512126
ABLIM3
5 149166179 intron variant T/A;C snv 1
rs4584690
ABCC4
13 95027878 intron variant T/C;G snv 1
rs4587017
UGT2B7
4 69081680 intron variant T/G snv 0.63 1