Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 14
rs80338848
SLC26A4
0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 4
rs111033212
SLC26A4
0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 4
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
rs730882207
EPB41L4A
0.925 0.160 5 112204453 missense variant G/A snv 2.4E-05 2.1E-05 2
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 14
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 16
rs370244148
WNT2B
0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6
rs75961395
CFTR
0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 2
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 2
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 7
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs1555696625
NFIX
0.851 0.360 19 13025409 missense variant G/A snv 7