Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854467
rs137854467
0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.810 1.000 31 1993 2017
dbSNP: rs137854467
rs137854467
0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.700 0
dbSNP: rs137854467
rs137854467
0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation
0.700 0
dbSNP: rs137854467
rs137854467
0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
0.700 0
dbSNP: rs137854467
rs137854467
0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
0.700 0
dbSNP: rs137854467
rs137854467
0.790 0.280 15 48600217 missense variant G/A snv
CUI: C4016055
Disease: MARFAN SYNDROME, ATYPICAL
MARFAN SYNDROME, ATYPICAL
0.700 0
dbSNP: rs137854467
rs137854467
0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
0.010 1.000 1 2009 2009