Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs3733890
BHMT ; DMGDH
0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 16
rs1316694869
TCN2
0.925 0.160 22 30615698 missense variant A/G snv 4.0E-06 2
rs2232775
NDUFA7 ; CD320
1.000 0.080 19 8308268 missense variant T/C snv 8.3E-02 0.16 1
rs781389750
TCN2
1.000 0.080 22 30610913 missense variant A/G snv 4.0E-06 1