Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs999921351
CNGB3
1.000 0.120 8 86628939 stop gained C/T snv 1
rs999844958
MMAA
1.000 0.080 4 145655252 stop gained C/G;T snv 4.0E-06 2.1E-05 1
rs999444545
BARD1
2 214781241 frameshift variant -/A delins 1
rs998675361
POGZ
1.000 0.040 1 151430806 missense variant G/A;C snv 9.0E-06 1
rs998297769
GABRE
X 151962587 stop gained G/T snv 1.1E-05 2.8E-05 1
rs998045226
GJB2
1.000 0.120 13 20189032 missense variant G/A snv 1.2E-05 2.8E-05 1
rs997026784
FDXR
1.000 17 74862864 missense variant C/T snv 1
rs996798292
GAA
1.000 0.120 17 80108793 frameshift variant -/TGCA delins 4.3E-06 7.0E-06 1
rs996419100
ATP7B
1.000 0.160 13 51968512 stop gained G/A;C snv 1
rs996389327
AIRE
1.000 0.080 21 44293175 splice donor variant G/- delins 1
rs995629797
PALB2
1.000 0.080 16 23626254 stop gained A/T snv 8.0E-06 2.8E-05 2
rs995265408
TH2LCRR ; RAD50
5 132638215 splice donor variant ACAAAAGGCAGG/- delins 1
rs995029896
TTN-AS1 ; TTN
0.925 0.160 2 178532670 stop gained G/A;C snv 4.0E-06; 2.0E-05 2
rs994902207
IDUA
1.000 0.120 4 1002730 splice acceptor variant A/T snv 7.5E-06 1
rs993687029
DONSON
1.000 21 33581370 stop gained G/A snv 1.6E-05 1.4E-05 1
rs993196576
LAMA2
1.000 0.120 6 129280059 splice acceptor variant A/G snv 3.6E-05; 8.0E-06 2.8E-05 1
rs993185407
USH2A
0.925 0.200 1 216247228 splice acceptor variant T/C snv 2
rs993103826
COL4A3 ; MFF-DT
1.000 2 227282411 frameshift variant C/- del 2.1E-05 1
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 2
rs992677795
NAGLU
1.000 0.120 17 42543564 missense variant C/T snv 4.1E-06 4.2E-05 1
rs992326794
EVC2
1.000 0.120 4 5708315 frameshift variant -/CCCCG delins 7.1E-06 1
rs992189342
GCOM1 ; MYZAP
15 57618106 stop gained C/A;T snv 7.0E-06 1
rs991612107
IDUA
0.882 0.120 4 1002748 stop gained G/A snv 1
rs991365297
BBS7
1.000 0.120 4 121835242 stop gained A/G;T snv 1
rs991227431
IGHMBP2
0.925 0.120 11 68936293 stop gained C/T snv 2.0E-05 1.4E-05 2