Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1137101
rs1137101
LEPR
0.020 GeneticVariation BEFREE CONCLUSIONS Gene polymorphism of leptin (loci rs7799039) and leptin receptor (loci rs</span>1137101) are correlated with GHD susceptibility. 26915772

2016
dbSNP: rs1137101
rs1137101
LEPR
0.020 GeneticVariation BEFREE These results suggest LEPR Q223R SNP (rs1137101) is associated with outcomes of GH replacement therapy in ISS and GHD patients. 23009903

2012
dbSNP: rs373184101
rs373184101
CSHL1 ; GH1 ; LOC112268204
0.010 GeneticVariation BEFREE Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy. 31199775

2019
dbSNP: rs60310264
rs60310264
LMNA
0.010 GeneticVariation BEFREE Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy. 31199775

2019
dbSNP: rs12515480
rs12515480
GHR
0.010 GeneticVariation BEFREE The heterozygous genotypes of rs12515480 and rs6873545 of GHR gene were associated with decreased risk of GHD in Chinese children. 29687007

2018
dbSNP: rs6873545
rs6873545
GHR
0.010 GeneticVariation BEFREE The heterozygous genotypes of rs12515480 and rs6873545 of GHR gene were associated with decreased risk of GHD in Chinese children. 29687007

2018
dbSNP: rs1137100
rs1137100
LEPR
0.010 GeneticVariation BEFREE No significant difference in allele frequency was discovered at loci rs1137100 (p>0.05), which was unrelated to GHD susceptibility. 26915772

2016
dbSNP: rs775145092
rs775145092
GPR101
0.010 GeneticVariation BEFREE One novel GPR101 variant, c.589 G>T (p.V197L), was seen in the heterozygous state in a patient with isolated GHD. 26797872

2016
dbSNP: rs7799039
rs7799039
LOC105375494
0.010 GeneticVariation BEFREE CONCLUSIONS Gene polymorphism of leptin (loci rs7799039) and leptin receptor (loci rs1137101) are correlated with GHD susceptibility. 26915772

2016
dbSNP: rs2291340
rs2291340
SLC12A1
0.010 GeneticVariation BEFREE At baseline, after adjustment for sex and BMI, SNP rs2291340 in the SLC12A1 gene was associated with ECW volume in GHD patients (p = 0.039). 25157616

2014
dbSNP: rs3782415
rs3782415
SOCS2
0.010 GeneticVariation BEFREE The SOCS2 polymorphism (rs3782415) has an influence on the adult height of children with TS and GHD after long-term rhGH therapy. 24905066

2014
dbSNP: rs2854744
rs2854744
IGFBP3
0.010 GeneticVariation BEFREE -202 A/C IGFBP3 genotyping (rs2854744) was correlated with data of 71 children with severe GHD who remained prepubertal during the first year of rhGH treatment. 18984657

2009
dbSNP: rs121909362
rs121909362
GHR
0.010 GeneticVariation BEFREE After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late adulthood, analysis of her clinical data followed, leading to the diagnosis of mild short stature (-1.5SD). 17462934

2007
dbSNP: rs372703574
rs372703574
TGM2
0.010 GeneticVariation BEFREE After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late adulthood, analysis of her clinical data followed, leading to the diagnosis of mild short stature (-1.5SD). 17462934

2007
dbSNP: rs755905735
rs755905735
CSHL1 ; GH1 ; LOC112268204
0.010 GeneticVariation BEFREE After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late adulthood, analysis of her clinical data followed, leading to the diagnosis of mild short stature (-1.5SD). 17462934

2007