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: rs672601337
rs672601337 		0.882 0.080 17 1270774 missense variant A/G snv
CUI: C1836206
Disease: Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2014 2014
dbSNP: rs672601338
rs672601338 		0.882 0.080 17 1270781 missense variant G/C snv 7.0E-06
CUI: C1836206
Disease: Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2014 2014
dbSNP: rs672601339
rs672601339 		0.882 0.080 17 1270787 missense variant G/T snv
CUI: C1836206
Disease: Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2014 2014
dbSNP: rs886037856
rs886037856 		0.882 0.080 17 1270783 missense variant GA/TT mnv
CUI: C1843758
Disease: Camptosynpolydactyly, Complex
Camptosynpolydactyly, Complex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2016 2016
dbSNP: rs672601337
rs672601337 		0.882 0.080 17 1270774 missense variant A/G snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs672601337
rs672601337 		0.882 0.080 17 1270774 missense variant A/G snv
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		Musculoskeletal Diseases 0.700 0
dbSNP: rs672601338
rs672601338 		0.882 0.080 17 1270781 missense variant G/C snv 7.0E-06
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		Musculoskeletal Diseases 0.700 0
dbSNP: rs672601338
rs672601338 		0.882 0.080 17 1270781 missense variant G/C snv 7.0E-06
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs672601339
rs672601339 		0.882 0.080 17 1270787 missense variant G/T snv
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		Musculoskeletal Diseases 0.700 0
dbSNP: rs672601339
rs672601339 		0.882 0.080 17 1270787 missense variant G/T snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs886037856
rs886037856 		0.882 0.080 17 1270783 missense variant GA/TT mnv
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 0
dbSNP: rs886037856
rs886037856 		0.882 0.080 17 1270783 missense variant GA/TT mnv
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886037856
rs886037856 		0.882 0.080 17 1270783 missense variant GA/TT mnv
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0