Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins 12
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 12
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1172486173
MIR6890 ; QARS1
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 11
rs185476065
MIR6890 ; QARS1
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 11
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6