Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906978
rs387906978
0.925 17 8121693 missense variant C/A snv 2.8E-05
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.700 1.000 2 2008 2010
dbSNP: rs387906979
rs387906979
0.925 17 8122397 missense variant T/C snv
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.700 1.000 2 2008 2010
dbSNP: rs4792250
rs4792250
17 8120900 3 prime UTR variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs113994160
rs113994160
0.925 0.080 17 8123096 missense variant G/A snv
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
0.700 0
dbSNP: rs113994160
rs113994160
0.925 0.080 17 8123096 missense variant G/A snv
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1332109041
rs1332109041
1.000 17 8123083 missense variant T/C snv 8.6E-06 1.4E-05
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.700 0
dbSNP: rs387906978
rs387906978
0.925 17 8121693 missense variant C/A snv 2.8E-05
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
0.700 0
dbSNP: rs387906979
rs387906979
0.925 17 8122397 missense variant T/C snv
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
0.700 0
dbSNP: rs398122970
rs398122970
1.000 17 8121854 frameshift variant -/GTTTGGGGCG delins
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
0.700 0