Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs189864513
LINC01618
0.925 0.040 4 52767390 intron variant T/C snv 1.9E-03 3
rs190783615 0.925 0.040 X 142772620 intergenic variant T/C snv 9.3E-03 3
rs1908557 0.925 0.040 4 89500202 intron variant T/C snv 0.31 3
rs1961982
C12orf42
0.925 0.040 12 103218955 intergenic variant G/A snv 0.27 2
rs200855945
SSPN ; BHLHE41
0.925 0.040 12 26124961 5 prime UTR variant ACACGCACAC/-;ACACGCACACACACGCACAC delins 1.6E-02 3
rs201203751
FYB1
0.925 0.040 5 39203496 intron variant TT/-;T;TTT delins 3
rs201569130 0.925 0.040 6 1402916 intergenic variant GACA/- delins 1.1E-02 3
rs2017122
KMT2A
0.925 0.040 11 118444134 intron variant C/T snv 4.0E-02 2
rs201921722 0.925 0.040 11 123679999 downstream gene variant -/A delins 9.2E-06 3
rs2075650
TOMM40
0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 25
rs2221540
OPCML
0.925 0.040 11 132846474 intron variant A/G snv 0.11 2
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 1
rs2302045
MTERF4 ; SNED1
0.851 0.040 2 241081801 splice region variant G/A snv 7.6E-02 1.0E-01 4
rs2522833
PCLO
0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 1
rs2710102
CNTNAP2
0.790 0.120 7 147877298 intron variant A/G;T snv 1
rs2979204 0.925 0.040 8 8441347 regulatory region variant T/C snv 0.34 3
rs2984618
TAL1
0.925 0.040 1 47224766 intron variant G/T snv 0.52 1
rs319924
EYS ; PHF3
0.925 0.040 6 63777354 intron variant A/G;T snv 2
rs34102224 0.925 0.040 8 5364506 downstream gene variant G/C snv 0.12 3
rs34177316
LOC107986273 ; APBB2
0.925 0.040 4 40985283 intron variant A/-;AA;AAA delins 3
rs352759
TUSC3
0.925 0.040 8 15742205 intron variant T/A snv 3
rs35792458
XKR6
0.925 0.040 8 10964921 intron variant G/C snv 0.53 3
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 1
rs4512342
NRG1
0.827 0.120 8 32750356 intron variant T/G snv 0.12 1
rs4685959 0.925 0.040 3 5645577 regulatory region variant C/G;T snv 2