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: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.800 1.000 37 1993 2019
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
0.800 1.000 6 1994 2012
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 4 2001 2009
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.700 0
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
0.700 0
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
Weill-Marchesani Syndrome, Autosomal Dominant
0.700 0
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME
0.700 0
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2
0.700 0
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome
0.700 0
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
0.020 1.000 2 2004 2007
dbSNP: rs137854480
rs137854480
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.010 1.000 1 2007 2007