Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs120074117
SMPD1
0.882 0.160 11 6394204 missense variant G/A;C;T snv 1.2E-05; 4.0E-06; 1.4E-04 5
rs120074124
SMPD1
0.882 0.160 11 6391976 missense variant T/C snv 1.6E-05 3.5E-05 4
rs120074118
SMPD1
0.925 0.160 11 6394537 inframe deletion GCC/- delins 3
rs120074121
SMPD1
0.925 0.160 11 6393276 missense variant G/A snv 3
rs120074126
SMPD1
0.925 0.160 11 6393620 missense variant C/T snv 7.0E-06 3
rs182812968
SMPD1
0.925 0.160 11 6393981 missense variant C/T snv 1.6E-05 4.2E-05 3
rs370129081
SMPD1
0.925 0.160 11 6394516 missense variant G/A snv 1.6E-05 7.0E-06 3
rs387906289
SMPD1
0.925 0.160 11 6392056 frameshift variant C/- delins 3
rs398123478
SMPD1
0.925 0.160 11 6394335 stop gained C/T snv 6.4E-05 7.0E-06 3
rs750779804
SMPD1
0.925 0.160 11 6391813 missense variant A/C snv 8.0E-06 3
rs753508874
SMPD1
0.925 0.160 11 6393985 missense variant C/A;T snv 2.0E-05 3
rs797044798
SMPD1
0.925 0.160 11 6391657 missense variant G/C snv 4.9E-06 3
rs797044800
SMPD1
0.925 0.160 11 6392141 missense variant C/A snv 3
rs120074120
SMPD1
1.000 0.160 11 6391853 stop gained T/A snv 4.0E-06 2
rs1319643225
SMPD1
1.000 0.160 11 6393949 missense variant T/C snv 4.0E-06 2
rs267607073
SMPD1
1.000 0.160 11 6393667 missense variant C/A snv 2
rs747342458
SMPD1
1.000 0.160 11 6394445 missense variant G/A;C snv 2
rs786204506
SMPD1
1.000 0.160 11 6390694 stop gained G/A snv 2
rs797044797
SMPD1
1.000 0.160 11 6391481 missense variant T/C snv 2
rs752796202
KIDINS220
2 8802930 missense variant C/G snv 4.0E-06 1
rs1050228
SMPD1
11 6390705 missense variant T/C snv 5.9E-03; 0.55; 7.2E-03; 1.1E-02; 0.26 0.45 1
rs749780080
SMPD1
11 6393332 missense variant G/C snv 1
rs797044799
SMPD1
11 6391939 missense variant C/A;G snv 1