Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 5
rs121964881
VAX2 ; ATP6V1B1
1.000 2 70958103 missense variant G/A snv 2.0E-05 9.1E-05 2
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv 3
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1281877795
MTIF2
1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins 2
rs1282248700
RAB3GAP1
1.000 2 135133919 frameshift variant GT/- delins 1.4E-05 2
rs1283368278
TBCE
1.000 1 235401503 missense variant G/C snv 7.0E-06 2
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv 3
rs1313319892
POGZ
1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv 2
rs1331331095
DHCR7
0.925 0.080 11 71435394 missense variant A/C;T snv 3
rs1340611668
HHAT
1 210348976 start lost A/G;T snv 7.0E-06 1
rs1341894581
ECEL1
0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04 3
rs1348467293
GUCY2D
1.000 17 8007529 splice donor variant G/A snv 4.0E-06 7.0E-06 2
rs1348892740
NOTCH1
9 136523954 stop gained G/A snv 6.2E-06 1
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3
rs1376334317
STAG1
0.925 3 136473546 missense variant C/T snv 3
rs1377989582
CHD4
1.000 12 6587756 missense variant T/A;G snv 2
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs137852769
GAREM2 ; HADHA
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03 4
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs137853063
VRK1
0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 3
rs137853229
RECQL4
0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 5