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: rs104894024
rs104894024 		0.925 0.120 7 2525301 missense variant C/A;T snv 4.0E-06
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		Musculoskeletal Diseases 0.700 1.000 1 2006 2006
dbSNP: rs893239
rs893239 		7 2525634 intron variant C/A;T snv 0.66; 4.1E-06
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs893239
rs893239 		7 2525634 intron variant C/A;T snv 0.66; 4.1E-06
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs104894024
rs104894024 		0.925 0.120 7 2525301 missense variant C/A;T snv 4.0E-06
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: rs1211456697
rs1211456697 		1.000 0.040 7 2525433 missense variant G/A snv 4.0E-06
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1562551396
rs1562551396 		1.000 0.040 7 2520233 frameshift variant G/- del
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		Musculoskeletal Diseases 0.700 0