Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1421405659
rs1421405659
MYBPC1
13 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
dbSNP: rs765243124
rs765243124
COL17A1
14 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
dbSNP: rs80338848
rs80338848
SLC26A4
6 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.700 0
dbSNP: rs111033212
rs111033212
SLC26A4
4 0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 0.700 0
dbSNP: rs267607048
rs267607048
SHOC2
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs730882207
rs730882207
EPB41L4A
2 0.925 0.160 5 112204453 missense variant G/A snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs28933386
rs28933386
PTPN11
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2006
dbSNP: rs370244148
rs370244148
WNT2B
6 0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 0.700 0
dbSNP: rs75961395
rs75961395
CFTR
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs77932196
rs77932196
CFTR
8 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs142920240
rs142920240
CFTR
5 0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs119103263
rs119103263
MFN2
19 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs762425351
rs762425351
CRAT
8 0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 0.700 1.000 1 2020 2020
dbSNP: rs141970897
rs141970897
CRAT
8 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020