Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 12
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv 10
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv 7
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23