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rs6060369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(A;G) 2
(C;C) 0.88cm taller
(C;T) 0.44cm taller
(T;T) 0 normal height
ReferenceGRCh38 38.1/141
Chromosome20
Position35319358
GeneUQCC1
is asnp
is mentioned by
dbSNPrs6060369
ebirs6060369
HLIrs6060369
Exacrs6060369
Varsomers6060369
Maprs6060369
PheGenIrs6060369
hapmaprs6060369
1000 genomesrs6060369
hgdprs6060369
ensemblrs6060369
gopubmedrs6060369
geneviewrs6060369
scholarrs6060369
googlers6060369
pharmgkbrs6060369
gwascentralrs6060369
openSNPrs6060369
23andMers6060369
23andMe allrs6060369
SNP Nexus

SNPshotrs6060369
SNPdbers6060369
MSV3drs6060369
GWAS Ctlgrs6060369
GMAF0.4298
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs6060369 is a SNP associated with a (slight) increase in height, in that individuals tend to be 0.44cm taller for each rs6060369(C) allele they carry. This finding was statistically significant (p=9.7x10e-7), and ultimately tested in over 28,000 individuals.[PMID 18193045OA-icon.png]

A haplotype of rs6060369 and rs143383, a neighboring SNP in the GDF5 gene, can be defined, which also links height to osteoarthritis since rs143383 has previously been linked to osteoarthritis.[PMID 18193045OA-icon.png]

Medpage article

GWAS
SNP rs6060369
PubMedID [PMID 18193045OA-icon.png]
Condition Height
Gene BFZB
Risk Allele C
pValue 2.00E-016
OR 0.44
95% CI NR) cm talle


GWAS snp
PMID [PMID 18391950OA-icon.png]
Trait Height
Title Identification of ten loci associated with height highlights new biological pathways in human growth
Risk Allele C
P-val 9.9999999999999998E-17
Odds Ratio 0.44 [0.34-0.72] cm taller
OMIM612228
DescSTATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14
Variant
Relatedalso
[PMID 19030899OA-icon.png] Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.

[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

[PMID 20017971OA-icon.png] Assessing the impact of global versus local ancestry in association studies.


GET Evidence
rs6060369
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.515873
summary