Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1306416169
NSMF
0.851 0.280 9 137453808 missense variant C/T snv 5
rs1487309678
SEMA3A
0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 5
rs1269636220
WDR11
0.851 0.280 10 120865109 missense variant A/G snv 5
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1565295267
MYRF ; TMEM258
0.827 0.360 11 61774051 missense variant C/A snv 6
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv 7
rs137854467
FBN1
0.790 0.280 15 48600217 missense variant G/A snv 7
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv 7
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv 10
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 12
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv 12
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1555397413
FBN1
0.732 0.280 15 48470705 missense variant T/C snv 13
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16