Disease: Langer-Giedion 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: rs1392714391
rs1392714391 		0.925 0.120 6 63285681 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018