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: rs727503057
rs727503057
FBN1
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs112550005
rs112550005
FBN1
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs1057518879
rs1057518879
PLOD1
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
19 0.807 0.280 1 26773716 stop gained C/G;T 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: rs886043994
rs886043994
ASXL1
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
22 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
dbSNP: rs387907260
rs387907260
KCTD7
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 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: rs137854466
rs137854466
FBN1
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs1554699491
rs1554699491
AGTPBP1
23 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
23 0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121908188
rs121908188
SELENON
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
dbSNP: rs121918494
rs121918494
FGFR2
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs199564797
rs199564797
SELENON
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs745886248
rs745886248
SELENON
25 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 0.700 0
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0