Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554380093
AP4M1
7 100105098 missense variant G/A snv 1
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 2
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs1555302735
COL4A1
13 110173899 splice donor variant C/T snv 1
rs1555303010
COL4A1
13 110176450 missense variant C/T snv 2
rs1064795935
COL4A1
1.000 13 110181389 missense variant C/T snv 3
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 3
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 2
rs1554314738
CCN6
6 112069431 frameshift variant -/C delins 1
rs781986930
CCN6
1.000 0.040 6 112069565 missense variant G/A;C snv 4.0E-06; 4.0E-06 2
rs1554008611
CTNND2
5 11236825 splice acceptor variant T/C snv 1
rs1554086554
KCNN2
5 114404815 inframe deletion TAT/- delins 1
rs1555243099
MED13L
1.000 12 115982526 missense variant A/T snv 2
rs1555247853
MED13L
1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins 2
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del 3
rs1555047506
KMT2A
11 118505003 frameshift variant GTTT/- delins 2
rs397517076
CBL
0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 3
rs1556213001
CUL4B
X 120544122 stop gained C/A snv 1
rs869320802
CTBP1 ; CTBP1-AS
1.000 4 1213028 missense variant G/A snv 2
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1553732126
ADCY5
3 123347875 frameshift variant -/G delins 2
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs80338680
MAN2B1
1.000 0.080 19 12649932 missense variant G/A;C;T snv 2.3E-04; 4.0E-06 2
rs1555706706
MAN2B1
19 12649968 frameshift variant C/- delins 1