Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 8
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs797044521
LOC105372797 ; DYRK1A
0.925 21 37480768 frameshift variant A/- delins 8
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins 8
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
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del 7
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
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7
rs1555548678
STAT5B
0.925 0.160 17 42216054 missense variant G/A snv 7
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs1557036757
HUWE1
0.925 0.240 X 53647375 missense variant G/A snv 7
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1559155800
OBSL1
1.000 0.200 2 219568150 missense variant C/T snv 7
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del 7
rs587777011
FAM111A
0.925 0.160 11 59153374 missense variant G/A snv 7
rs797044526
DYRK1A ; LOC105372797
0.925 21 37490393 missense variant C/T snv 7