Source: BEFREE ×
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 213
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 10
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
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
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 230
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 221