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: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.700 1.000 14 1999 2016
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 8 1999 2019
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0241240
Disease: Tall stature
Tall stature
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
Weill-Marchesani Syndrome, Autosomal Dominant
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs727503054
rs727503054
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.700 0