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: rs1060499680
rs1060499680
GNPTAB
6 0.882 0.200 12 101768036 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1060499681
rs1060499681
GNPTAB
6 0.882 0.200 12 101764303 frameshift variant C/- del 0.700 0
dbSNP: rs1060499685
rs1060499685
GNPTAB
5 0.882 0.160 12 101764547 frameshift variant AA/- delins 0.700 0
dbSNP: rs1060499688
rs1060499688
GNPTAB
4 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
dbSNP: rs1060499689
rs1060499689
GNPTAB
3 0.925 0.160 12 101753435 missense variant G/A snv 0.700 0
dbSNP: rs113422242
rs113422242
FBN1
14 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1555269154
rs1555269154
GNPTAB
7 0.851 0.280 12 101761307 frameshift variant -/CTTTGTGA delins 0.700 0
dbSNP: rs1555271865
rs1555271865
GNPTAB
5 0.925 0.160 12 101786204 frameshift variant -/T delins 0.700 0
dbSNP: rs1566902569
rs1566902569
FBN1
9 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
dbSNP: rs281864996
rs281864996
GNPTAB
10 0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 0.700 0
dbSNP: rs546802775
rs546802775
GNPTAB
5 0.851 0.240 12 101765329 intron variant TTT/-;TT;TTTT delins 5.1E-06 0.700 0
dbSNP: rs750240374
rs750240374
GNPTAB
5 0.882 0.240 12 101766103 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs751953529
rs751953529
GNPTAB
6 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs786205448
rs786205448
LMNA
3 1.000 0.040 1 156138563 missense variant G/A snv 7.0E-06 0.700 0