Disease: Laron syndrome type 2 ×
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: rs121908501
rs121908501 		0.925 0.240 17 42210189 missense variant C/G snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 3 2003 2012
dbSNP: rs761761205
rs761761205 		1.000 0.120 17 42218218 frameshift variant G/-;GG delins
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121908502
rs121908502 		1.000 0.120 17 42223478 stop gained G/A snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555548678
rs1555548678 		0.925 0.160 17 42216054 missense variant G/A snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555548680
rs1555548680 		1.000 0.120 17 42216066 missense variant T/C snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555549674
rs1555549674 		0.882 0.240 17 42223402 missense variant T/G snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0