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: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C2748518
Disease: Lumbar scoliosis
Lumbar scoliosis
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
Weill-Marchesani Syndrome, Autosomal Dominant
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C4721438
Disease: Mitral valve dysplasia
Mitral valve dysplasia
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME
0.700 0
dbSNP: rs1555397413
rs1555397413
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome
0.700 0