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rs1060499692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499692(A;A)
Make rs1060499692(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position42694931
GeneGHR
is asnp
is mentioned by
dbSNPrs1060499692
dbSNP (classic)rs1060499692
ClinGenrs1060499692
ebirs1060499692
HLIrs1060499692
Exacrs1060499692
Gnomadrs1060499692
Varsomers1060499692
LitVarrs1060499692
Maprs1060499692
PheGenIrs1060499692
Biobankrs1060499692
1000 genomesrs1060499692
hgdprs1060499692
ensemblrs1060499692
geneviewrs1060499692
scholarrs1060499692
googlers1060499692
pharmgkbrs1060499692
gwascentralrs1060499692
openSNPrs1060499692
23andMers1060499692
23andMe allrs1060499692
SNPshotrs1060499692
SNPdbers1060499692
MSV3drs1060499692
GWAS Ctlgrs1060499692
Max Magnitude0
ClinVar
Risk rs1060499692(A;A)
Alt rs1060499692(A;A)
Reference Rs1060499692(G;G)
Significance Probable-Pathogenic
Disease Laron-type isolated somatotropin defect
Variation info
Gene GHR
CLNDBN Laron-type isolated somatotropin defect
Reversed 0
HGVS NC_000005.9:g.42695033G>A
CLNSRC
CLNACC RCV000449581.1,