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: 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: 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: rs1232880706
rs1232880706
FBN1
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs137854461
rs137854461
FBN1
12 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
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: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555398397
rs1555398397
FBN1
10 0.807 0.240 15 48485436 missense variant C/T snv 0.700 0
dbSNP: rs1555630216
rs1555630216
PIEZO2
22 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555648288
rs1555648288
PIEZO2
22 0.790 0.160 18 10795003 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs397515804
rs397515804
FBN1
11 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 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: rs886039900
rs886039900
AHDC1
8 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0