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rs17563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.1 Risk for otosclerosis
(T;T) 0 common in clinvar
Make rs17563(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position53950804
GeneBMP4
is asnp
is mentioned by
dbSNPrs17563
ebirs17563
HLIrs17563
Exacrs17563
Varsomers17563
Maprs17563
PheGenIrs17563
hapmaprs17563
1000 genomesrs17563
hgdprs17563
ensemblrs17563
gopubmedrs17563
geneviewrs17563
scholarrs17563
googlers17563
pharmgkbrs17563
gwascentralrs17563
openSNPrs17563
23andMers17563
23andMe allrs17563
SNP Nexus

SNPshotrs17563
SNPdbers17563
MSV3drs17563
GWAS Ctlgrs17563
GMAF0.3714
Max Magnitude2.1
? (C;C) (C;T) (T;T) 28
[PMID 18021008OA-icon.png] rs17563(G) allele, coding for the amino acid alanine, confers susceptibility to otosclerosis (combined populations: p = 0.002; OR = 1.209; 95% CI: 1.070-1.370)


[PMID 19557432] A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population


[PMID 21034624] T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population


[PMID 22191848] TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis


[PMID 18551993] SNP combinations in chromosome-wide genes are associated with bone mineral density in Taiwanese women.


[PMID 19011631OA-icon.png] Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.


[PMID 20057906OA-icon.png] Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.


[PMID 22052794] A new haplotype in BMP4 implicated in ossification of the posterior longitudinal ligament (OPLL) in a Chinese population.


GET Evidence
BMP4-V152A
aa_change Val152Ala
aa_change_short V152A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.442554
summary



GWAS snp
PMID [PMID 23704328OA-icon.png]
Trait Primary tooth development (time to first tooth eruption)
Title Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
Risk Allele G
P-val 9E-17
Odds Ratio .24 [0.18-0.3] unit decrease


[PMID 24559233] Genetic analysis of BMP4 gene in Chinese Han female population with premature ovarian insufficiency


[PMID 22886282OA-icon.png] Association of BMPR1A polymorphism, but not BMP4, with kidney size in full-term newborns.


[PMID 25648829OA-icon.png] Association between BMP4 rs17563 Polymorphism and NSCL/P Risk: A Meta-Analysis


[PMID 26072521] A Candidate-Pathway Approach to Identify Gene-Environment Interactions: Analyses of Colon Cancer Risk and Survival


ClinVar
Risk rs17563(C;C)
Alt rs17563(C;C)
Reference rs17563(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene BMP4
CLNDBN not specified
Reversed 1
HGVS NC_000014.8:g.54417522A>G
CLNSRC
CLNACC RCV000178157.1,