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: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.700 1.000 3 1994 2002
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 3 1994 2002
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0426422
Disease: Narrow nose
Narrow nose
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0016202
Disease: Flatfoot
Flatfoot
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin
0.700 0