Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs200182588
SMC2-AS1 ; SMC2
0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11
rs776941569
CTSB
0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04 6
rs1353855643
ELAC2
0.925 0.080 17 13000197 frameshift variant T/- del 4.0E-06 2
rs866195758
TLR10
0.925 0.080 4 38774477 frameshift variant GCAGTTGGAT/- del 2
rs11290954
EMSY
1.000 0.080 11 76549500 intron variant C/- del 0.28 1
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs333
CCR5 ; CCR5AS
0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 23
rs28360071
XRCC4
0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs28360317
XRCC4
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs3917887
CCL2
0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33 8
rs6147150
ERBB4
0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 5
rs17884057
SOD1
0.925 0.080 21 31664502 intron variant AGA/- delins 0.13 2
rs4646284
SLC22A1
0.925 0.080 6 160160511 downstream gene variant -/G delins 0.31 2
rs112193369
CAMTA1
1.000 0.080 1 7498191 intron variant -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG delins 1
rs112293876
MAP2K1
1.000 0.080 15 66472304 intron variant AA/-;A;AAA;AAAA delins 0.24 1
rs11452686
ITGB8
1.000 0.080 7 20374488 intron variant AAAAA/-;A;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAAAAAAAAA delins 1
rs11480453 1.000 0.080 20 32759707 upstream gene variant AA/-;A;AAA;AAAA;AAAAA;AAAAAA delins 1
rs138731641 1.000 0.080 9 80614113 intergenic variant A/-;AA delins 2.9E-02 1
rs141536087
LARP4B
1.000 0.080 10 808752 intron variant ACACACACACACACAC/-;ACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC delins 1