Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167445
rs1114167445
SPTBN4
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs121918494
rs121918494
FGFR2
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
22 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
dbSNP: rs1555649483
rs1555649483
BPTF
12 0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 0.700 1.000 1 2017 2017
dbSNP: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519443
rs1057519443
MPP4
7 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
dbSNP: rs1554110735
rs1554110735
TFAP2A
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs376103091
rs376103091
EARS2
10 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs587783772
rs587783772
MTM1
14 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518883
rs1057518883
FBN1
7 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
dbSNP: rs1085308004
rs1085308004
FBN1
9 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
dbSNP: rs112550005
rs112550005
FBN1
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs1555398397
rs1555398397
FBN1
10 0.807 0.240 15 48485436 missense variant C/T snv 0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
10 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs397515789
rs397515789
FBN1
10 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
dbSNP: rs761857514
rs761857514
FBN1
8 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs1269636220
rs1269636220
WDR11
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1306416169
rs1306416169
NSMF
5 0.851 0.280 9 137453808 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1487309678
rs1487309678
SEMA3A
5 0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015