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: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.700 1.000 8 1999 2015
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 6 1999 2015
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome
0.700 0
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2
0.700 0
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
Weill-Marchesani Syndrome, Autosomal Dominant
0.700 0
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C0002940
Disease: Aneurysm
Aneurysm
0.700 0
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.700 0
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
0.700 0
dbSNP: rs397515757
rs397515757
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME
0.700 0