Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7034162
NFIB
0.882 0.040 9 14190288 intron variant A/T snv 0.81 4
rs56149945
NR3C1
0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs770771727
UTRN
0.882 0.040 6 144751941 missense variant A/C;G snv 4.5E-05; 2.5E-05 3
rs59267781
LMNA
0.851 0.120 1 156138657 missense variant C/G snv 4
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs568408
IL12A ; IL12A-AS1
0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 29
rs998075
IGF2R
0.882 0.040 6 160047246 synonymous variant A/G snv 0.53 0.54 3
rs998074
IGF2R
0.882 0.040 6 160047351 intron variant T/A;C snv 0.53 3
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs7646409
PIK3CA
0.882 0.040 3 179182405 intron variant T/C snv 0.26 4
rs9866361
PIK3CA
0.882 0.040 3 179190061 intron variant G/A snv 0.24 3
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv 4
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs368933511
MRNIP ; SQSTM1
0.851 0.080 5 179836485 missense variant C/G;T snv 4.0E-06; 4.0E-06 5
rs764191858
PDLIM3
0.882 0.040 4 185502359 missense variant G/A snv 3
rs8103992 0.882 0.040 19 19554834 regulatory region variant A/C;T snv 3
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 40
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
rs231755 0.882 0.040 2 203888846 regulatory region variant G/C snv 0.11 3
rs17111750 0.882 0.040 14 20442249 downstream gene variant C/T snv 0.30 3
rs2275008
OSGEP
0.827 0.080 14 20448090 non coding transcript exon variant T/A;C snv 4.0E-06; 0.26 5