GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Disease: Kowarski 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: rs137853220
rs137853220 		0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 1996 2007
dbSNP: rs137853221
rs137853221 		0.925 0.160 17 63917803 missense variant T/C snv
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 1996 2007
dbSNP: rs137853222
rs137853222 		0.925 0.160 17 63918072 missense variant C/A;G snv
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0