Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs1057516034
NIPBL
0.925 0.120 5 37052453 stop gained C/T snv 5
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins 4
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv 4
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv 6
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs1057518940
RYR1
0.925 0.040 19 38499718 missense variant G/A snv 4
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 4
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del 7
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1057519370
NF1
0.882 0.120 17 31159091 splice donor variant G/- delins 7
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs1057519451
NRXN3 ; LOC105370589
1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05 2
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11