Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 34
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs1443187318
AEBP1
0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 13
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv 8
rs751953529
GNPTAB
0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 6
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins 6
rs1562931936
KMT2E
1.000 7 105107527 stop gained C/T snv 5
rs1568406407
LTBP4
0.925 0.280 19 40611169 stop gained C/T snv 4
rs372359356
FRAS1
0.925 0.120 4 78337784 missense variant G/A snv 2.8E-05 3.5E-05 3
rs780263938
GLI3
0.925 0.120 7 41966347 missense variant G/C snv 8.4E-06 3