Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs56299331
TCF7L2
1.000 0.040 10 113028677 intron variant C/T snv 0.15 1
rs2908972
SHISA6
1.000 0.040 17 11503942 intron variant T/A snv 0.39 1
rs1064583
NT5DC1 ; COL10A1
0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 2
rs10892173
DSCAML1 ; LOC107984394 ; FXYD2
1.000 0.040 11 117801846 3 prime UTR variant C/T snv 0.38 1
rs7839488
SNTB1
0.882 0.040 8 120550178 intron variant G/A snv 0.47 4
rs6469937
SNTB1
0.882 0.040 8 120598198 intron variant G/A snv 0.48 3
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs577948
MIR100HG
0.882 0.040 11 122159482 intron variant A/G snv 0.33 3
rs11218544
MIR100HG
1.000 0.040 11 122168344 intron variant T/G snv 0.15 1
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs1889891
LAMA2
1.000 0.040 6 129492201 non coding transcript exon variant C/T snv 0.37 1
rs12193446
LAMA2 ; LOC102723409
0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 3
rs9321170
LOC102723409 ; LAMA2
1.000 0.040 6 129501692 intron variant G/A;C snv 1
rs1793639
NTM
1.000 0.040 11 132061637 intron variant G/A snv 0.39 1
rs879255531
EHMT1
0.882 0.400 9 137728379 stop gained C/T snv 5
rs11743810
EGR1
1.000 0.040 5 138466715 intron variant C/T snv 0.50 0.48 1
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs9866391
ZBTB38 ; PXYLP1
1.000 0.040 3 141357242 intron variant T/C snv 0.41 2
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21 4
rs61049169 1.000 0.040 2 146131140 intergenic variant G/A;C snv 1
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43