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
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 8
rs3917
COL1A2
0.925 0.160 7 94431047 3 prime UTR variant -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC ins 3
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7
0.807 0.160 2 233682328 missense variant CG/AA mnv 8
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs771314938
UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7
0.807 0.160 2 233682328 frameshift variant CG/- del 8
rs16405
BTRC
0.882 0.120 10 101553963 3 prime UTR variant AACAGTGGA/- del 0.31 4
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
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
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 14
rs879625015
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8
0.807 0.160 2 233682328 frameshift variant CG/A delins 8
rs1054690270
LOC101928953 ; GPT
0.827 0.160 8 144505907 frameshift variant CT/- delins 5
rs28381975
PDCD6IP ; LOC105377023
0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 5
rs56228771
SGSM3 ; MRTFA
0.827 0.200 22 40410091 3 prime UTR variant -/GTCT;GTCTGTCT delins 5
rs6147150
ERBB4
0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 5
rs1064793929
TP53
0.882 0.280 17 7675167 frameshift variant A/-;AA delins 4
rs41557518
HLA-G
0.925 0.080 6 29828658 frameshift variant C/- delins 2.9E-02 2
rs57408770
MIR3131 ; IHH
1.000 0.080 2 219058688 non coding transcript exon variant -/AAG delins 2
rs112395617
RAVER2 ; JAK1
1.000 0.080 1 64833868 3 prime UTR variant -/TTAA;TTAATTAA delins 1
rs17875871
IFNAR1
1.000 0.080 21 33358387 3 prime UTR variant GAGA/-;GA delins 1
rs199618935
PTPN11
1.000 0.080 12 112506947 3 prime UTR variant ATGATGATGATGATGATGATGATG/-;ATGATG;ATGATGATG;ATGATGATGATG;ATGATGATGATGATG;ATGATGATGATGATGATG;ATGATGATGATGATGATGATG;ATGATGATGATGATGATGATGATGATG;ATGATGATGATGATGATGATGATGATGATG;ATGATGATGATGATGATGATGATGATGATGATG;ATGATGATGATGATGATGATGATGATGATGATGATGATG delins 5.2E-02 1
rs34000982
HMGB1
1.000 0.080 13 30459175 3 prime UTR variant -/ATTA delins 0.28 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614