Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs4962153
ADAMTS13 ; CACFD1
0.925 0.120 9 133458632 intron variant A/G snv 0.79 9
rs234709
CBS
0.827 0.200 21 43066854 intron variant C/T snv 7
rs6586282
CBS
0.882 0.080 21 43058387 intron variant C/T snv 5
rs7422339
CPS1
1.000 0.080 2 210675783 missense variant C/A snv 5
rs1801222
CUBN
0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72 5
rs548987
SLC17A3
0.882 0.200 6 25869143 intron variant G/C snv 0.20 5
rs838133
FGF21 ; FUT1
19 48756272 synonymous variant A/G;T snv 0.67; 4.0E-06 3
rs12085006 1 11898666 intergenic variant A/G;T snv 2
rs1999594 1 11899159 regulatory region variant G/A;C;T snv 2
rs2851391
CBS
1.000 0.080 21 43067294 intron variant T/C snv 2
rs10986018
GABBR2
9 98361054 intron variant T/C snv 7.9E-02 2
rs2251468
HNF1A-AS1
12 120967323 intron variant C/A;G;T snv 2
rs164746 16 89642611 downstream gene variant G/A snv 0.35 1
rs17354370 7 19560244 intron variant A/G snv 0.29 1
rs9369898 6 49414480 intergenic variant G/A;C snv 1
rs10934753
ALDH1L1-AS2 ; ALDH1L1
3 126187336 intron variant G/A snv 0.36 1
rs12134663
C1orf167 ; C1orf167-AS1
1 11778589 intron variant A/C;G snv 1
rs234714
CBS
21 43067923 non coding transcript exon variant T/C snv 1
rs6940729
CD2AP
6 47585184 intron variant T/A;C;G snv 1
rs9296404
CNPY3-GNMT
6 42958065 upstream gene variant T/C snv 0.57 1
rs154657
DPEP1
16 89641688 downstream gene variant G/A snv 0.33 1
rs12921383
FANCA
16 89793345 intron variant T/C snv 7.8E-02 1