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: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C3494422
Disease: Retrognathia
Retrognathia
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C1858085
Disease: Malar flattening
Malar flattening
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0004106
Disease: Astigmatism
Astigmatism
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0016202
Disease: Flatfoot
Flatfoot
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
0.700 0
dbSNP: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0221358
Disease: Long narrow head
Long narrow head
0.700 0