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rs6413484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6413484(A;A)
Make rs6413484(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position42699868
GeneGHR
is asnp
is mentioned by
dbSNPrs6413484
ebirs6413484
HLIrs6413484
Exacrs6413484
Varsomers6413484
Maprs6413484
PheGenIrs6413484
hapmaprs6413484
1000 genomesrs6413484
hgdprs6413484
ensemblrs6413484
gopubmedrs6413484
geneviewrs6413484
scholarrs6413484
googlers6413484
pharmgkbrs6413484
gwascentralrs6413484
openSNPrs6413484
23andMers6413484
23andMe allrs6413484
SNP Nexus

SNPshotrs6413484
SNPdbers6413484
MSV3drs6413484
GWAS Ctlgrs6413484
GMAF0.005969
Max Magnitude0
OMIM600946
Desc
Variant0020
Relatedalso
? (G;G)


ClinVar
Risk rs6413484(A,T;A,T)
Alt rs6413484(A,T;A,T)
Reference rs6413484(G;G)
Significance Pathogenic
Disease Short stature
Variation info
Gene GHR
CLNDBN Short stature, idiopathic, autosomal
Reversed 0
HGVS NC_000005.9:g.42699970G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009184.4,



GET Evidence
GHR-V162I
aa_change Val162Ile
aa_change_short V162I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00325339
summary