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rs6180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(C;C) 0
Make rs6180(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position42719137
GeneGHR
is asnp
is mentioned by
dbSNPrs6180
ebirs6180
HLIrs6180
Exacrs6180
Varsomers6180
Maprs6180
PheGenIrs6180
hapmaprs6180
1000 genomesrs6180
hgdprs6180
ensemblrs6180
gopubmedrs6180
geneviewrs6180
scholarrs6180
googlers6180
pharmgkbrs6180
gwascentralrs6180
openSNPrs6180
23andMers6180
23andMe allrs6180
SNP Nexus

SNPshotrs6180
SNPdbers6180
MSV3drs6180
GWAS Ctlgrs6180
GMAF0.4426
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene GHR
allele C
frequency 0.483
sift TOLERATED
HuRef 1103654086735
Disease Association Defects in GHR are a cause of idiopathic short stature (ISS) (MIM:600946). ISS is defined by a subnormal rate of growth.



OMIM600946
Desc
Variant0028
Relatedalso


ClinVar
Risk rs6180(C;C)
Alt rs6180(C;C)
Reference rs6180(A;A)
Significance Other
Disease Familial hypercholesterolemia not specified
Variation info
Gene GHR
CLNDBN Familial hypercholesterolemia not specified
Reversed 0
HGVS NC_000005.9:g.42719239A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009190.3, RCV000173652.1,



[PMID 20445798OA-icon.png] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.


GET Evidence
GHR-I544L
aa_change Ile544Leu
aa_change_short I544L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.434746
summary