Disease: Schwartz-Jampel Syndrome ×
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: rs5010528
rs5010528 		0.827 0.240 6 31273255 intron variant A/G snv 0.15
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2017 2018