GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Disease: Isolated somatotropin deficiency ×
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: rs137853223
rs137853223 		0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.020 1.000 2 2001 2020
dbSNP: rs1379188099
rs1379188099 		1.000 17 63918087 missense variant G/A snv 4.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2011 2011
dbSNP: rs373184101
rs373184101 		0.925 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2019 2019
dbSNP: rs755905735
rs755905735 		0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2007 2007
dbSNP: rs763850922
rs763850922 		0.925 0.120 17 63917760 splice region variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2007 2007