HMGA2, high mobility group AT-hook 2, 8091

N. diseases: 382; N. variants: 23
Disease: Russell-Silver 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: rs1114167319
rs1114167319 		1.000 0.080 12 65828082 stop gained C/T snv
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1114167320
rs1114167320 		1.000 0.080 12 65828078 frameshift variant A/- del
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0