Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1052053
PMF1 ; PMF1-BGLAP
1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 3
rs2072499
SLC25A44
1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 3
rs2758603
PMF1-BGLAP ; PMF1
1 156229203 intron variant T/C snv 0.37 2
rs2842870
PMF1 ; PMF1-BGLAP
1 156230880 intron variant T/A;C snv 2
rs2253677
SLC25A44
1.000 0.040 1 156201505 intron variant C/G snv 0.42 2
rs2241107
SLC25A44 ; PMF1 ; PMF1-BGLAP
1.000 0.040 1 156212919 upstream gene variant T/C;G snv 2
rs2853641
SLC25A44 ; PMF1 ; PMF1-BGLAP
1.000 0.040 1 156211979 3 prime UTR variant A/G snv 0.43 2
rs10161441 12 73136489 intron variant C/T snv 0.27 1
rs10879561 12 73139547 intron variant A/T snv 0.28 1
rs10879567 12 73156312 upstream gene variant G/A;C snv 1
rs10879568 12 73156497 upstream gene variant C/T snv 0.28 1
rs10879569 12 73157101 upstream gene variant A/G snv 0.28 1
rs11179569 12 73153274 intergenic variant G/A;C;T snv 1
rs11587860 1 156187160 downstream gene variant G/C;T snv 1
rs11655160 17 10989753 intergenic variant G/A snv 0.19 1
rs1516058 12 73137889 intron variant T/C snv 0.28 1
rs1606958 12 73266151 intergenic variant C/A snv 0.27 1
rs2758615 1 156188576 downstream gene variant T/C snv 0.43 1
rs2758616 1 156190567 upstream gene variant T/C snv 0.42 1
rs2758618 1 156191101 upstream gene variant T/C;G snv 1
rs2842864 1 156189426 upstream gene variant G/A;C snv 1
rs2842865 1 156189741 upstream gene variant G/A snv 0.42 1