Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199474657 0.744 0.321 MT 3243 non coding transcript exon variant snp 15
rs113993993
SBDS
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03 8
rs121918461
PTPN11
0.801 0.250 12 112450362 missense variant A/C,G,T snp 4
rs1057519451
NRXN3 ; LOC105370589
1.000 0.107 14 78709310 missense variant A/G snp 2
rs121913115
FGFR3
1.000 0.107 4 1801928 missense variant A/G snp 2
rs531047390
NRXN3
1.000 0.107 14 78968349 splice region variant A/G snp 2.0E-04 3.2E-05 2
rs28933068
FGFR3
0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05 6
rs753242774
DHX30 ; MIR1226
1.000 3 47848237 missense variant C/A,T snp 9
rs748106387
SMARCAL1
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05 8
rs1057518863
COL7A1
0.923 0.107 3 48567190 missense variant C/A,T snp 4
rs121913482
FGFR3
0.685 0.393 4 1801837 missense variant C/T snp 23
rs119103263
MFN2
0.821 0.143 1 11992659 missense variant C/T snp 19
rs141322087
ABCC8
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05 12
rs386834061
VPS13B
0.923 0.321 8 99868312 stop gained C/T snp 10
rs1057518791
TRPS1
0.923 0.107 8 115604739 stop gained C/T snp 8
rs1057518907
GNAS
0.878 0.179 20 58891811 stop gained C/T snp 8
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp 7
rs1057518908
COL2A1
0.923 0.071 12 47984112 missense variant C/T snp 6
rs397517148
SOS1
0.846 0.179 2 39023128 missense variant C/T snp 5
rs1801175
G6PC
0.821 0.143 17 42903947 missense variant C/T snp 5.7E-04 2.2E-04 4
rs1057518939
VPS13B
1.000 0.036 8 99511424 frameshift variant CA/C in-del 9
rs121912854
COL7A1
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05 18
rs121912855
COL7A1
0.821 0.107 3 48575218 missense variant G/A snp 2.0E-05 17
rs201431517
MTFMT
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04 9
rs780261665
COL7A1
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05 9