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: rs1052480459
rs1052480459
FBN1
2 0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06 0.700 0
dbSNP: rs1057518912
rs1057518912
FBN1
1 1.000 0.160 15 48456643 frameshift variant A/- delins 0.700 0
dbSNP: rs1057519320
rs1057519320
FBN1
7 0.807 0.160 15 48444574 missense variant G/A snv 0.700 0
dbSNP: rs1057519321
rs1057519321
FBN2
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.700 0
dbSNP: rs1057519502
rs1057519502
FBN1
1 1.000 0.160 15 48495237 stop gained G/A snv 0.700 0
dbSNP: rs1057520617
rs1057520617
FBN1
1 1.000 0.160 15 48430770 missense variant A/G snv 0.700 0
dbSNP: rs1057520728
rs1057520728
FBN1
1 1.000 0.160 15 48422057 missense variant A/C;G snv 0.700 0
dbSNP: rs1057523406
rs1057523406
FBN1
2 0.925 0.160 15 48494209 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1060501013
rs1060501013
FBN1
1 1.000 0.160 15 48488410 frameshift variant C/- del 0.700 0
dbSNP: rs1060501014
rs1060501014
FBN1
1 1.000 0.160 15 48415567 missense variant A/G snv 0.700 0
dbSNP: rs1060501016
rs1060501016
FBN1
1 1.000 0.160 15 48428395 stop gained A/T snv 0.700 0
dbSNP: rs1060501019
rs1060501019
FBN1
1 1.000 0.160 15 48534131 missense variant A/C snv 0.700 0
dbSNP: rs1060501022
rs1060501022
FBN1
2 0.925 0.160 15 48496214 missense variant A/G snv 0.700 0
dbSNP: rs1060501024
rs1060501024
FBN1
1 1.000 0.160 15 48503820 stop gained C/A snv 0.700 0
dbSNP: rs1060501026
rs1060501026
FBN1
1 1.000 0.160 15 48474299 missense variant C/G snv 0.700 0
dbSNP: rs1060501027
rs1060501027
FBN1
1 1.000 0.160 15 48503871 frameshift variant -/T ins 0.700 0
dbSNP: rs1060501031
rs1060501031
FBN1
1 1.000 0.160 15 48463212 frameshift variant G/- del 0.700 0
dbSNP: rs1060501034
rs1060501034
FBN1
1 1.000 0.160 15 48436986 stop gained A/T snv 0.700 0
dbSNP: rs1060501035
rs1060501035
FBN1
1 1.000 0.160 15 48537755 stop gained G/A snv 0.700 0
dbSNP: rs1060501038
rs1060501038
FBN1
1 1.000 0.160 15 48520672 frameshift variant G/- delins 0.700 0
dbSNP: rs1060501039
rs1060501039
FBN1
1 1.000 0.160 15 48474554 stop gained C/T snv 0.700 0
dbSNP: rs1060501040
rs1060501040
FBN1
1 1.000 0.160 15 48488411 stop gained A/C;T snv 0.700 0
dbSNP: rs1060501041
rs1060501041
FBN1
1 1.000 0.160 15 48508665 missense variant C/G;T snv 0.700 0
dbSNP: rs1060501042
rs1060501042
FBN1
1 1.000 0.160 15 48421606 frameshift variant -/T ins 0.700 0
dbSNP: rs1060501043
rs1060501043
FBN1
1 1.000 0.160 15 48470723 frameshift variant CA/- delins 0.700 0