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
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs35049558
MYL2
0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 8
rs1799768
SERPINE1
0.807 0.360 7 101126425 upstream gene variant -/A;C ins 6
rs70991108
MSH3 ; DHFR
0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 6
rs200182588
SMC2-AS1 ; SMC2
0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins 6
rs3836790
SLC6A3
0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 5
rs397508687
CFTR
0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06 5
rs1414323823
CYP1A1
0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 4
rs67164370
RASSF2
0.851 0.120 20 4787830 intron variant -/AGGGACT ins 4
rs34917480
EML6 ; RTN4
0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 3
rs3832406
MTHFD1L
0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05 3
rs3917
COL1A2
0.925 0.160 7 94431047 3 prime UTR variant -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC ins 3
rs3215684
PTPN1
0.925 0.080 20 50578329 intron variant -/T;TC ins 0.62 2
rs483353122
BRCA2
0.851 0.200 13 32363410 frameshift variant -/AG ins 2
rs3832879
FGF23
12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 2
rs35605815
PCSK9
0.925 0.040 1 55052407 frameshift variant -/T ins 2
rs754284524
SRFBP1 ; LOX
1.000 0.040 5 122074125 stop gained -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC ins 4.0E-06 2
rs777296100
SNCA
0.925 0.080 4 89725318 3 prime UTR variant -/TAA;TAAAA ins 2
rs779957223
NLRP12
1.000 0.040 19 53804069 frameshift variant -/AG ins 1.2E-05 1.4E-05 2
rs34852782
PRKAG2
0.925 0.120 7 151869086 intron variant -/A;AG ins 2
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 2