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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
dbSNP (classic)rs17563
ClinGenrs17563
ebirs17563
HLIrs17563
Exacrs17563
Gnomadrs17563
Varsomers17563
LitVarrs17563
Maprs17563
PheGenIrs17563
Biobankrs17563
1000 genomesrs17563
hgdprs17563
ensemblrs17563
geneviewrs17563
scholarrs17563
googlers17563
pharmgkbrs17563
gwascentralrs17563
openSNPrs17563
23andMers17563
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.

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 26072521OA-icon.png] 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 Probable-non-pathogenic
Disease not specified BMP4-Related Syndromic Microphthalmia Syndromic Microphthalmia Cleft Lip +/- Cleft Palate Orofacial cleft
Variation info
Gene BMP4
CLNDBN not specified BMP4-Related Syndromic Microphthalmia Syndromic Microphthalmia, Dominant Cleft Lip +/- Cleft Palate, Autosomal Dominant Orofacial cleft
Reversed 1
HGVS NC_000014.8:g.54417522A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000178157.2, RCV000274304.1, RCV000309331.1, RCV000366338.1, RCV000405370.1,



[PMID 28057877] Previous miscarriages and GLI2 are associated with anorectal malformations in offspring.


[PMID 29860186] Association between BMP4 gene polymorphisms and cleft lip with or without cleft palate in a population from South China.


[PMID 32211112OA-icon.png] Gene-gene interactions between BMP4 and ARHGAP29 among non-syndromic cleft lip only (NSCLO) trios from western Han Chinese population.


[PMID 33245975] INVESTIGATION OF GENETIC POLYMORPHISMS IN BMP2, BMP4, SMAD6, AND RUNX2 AND PERSISTENT APICAL PERIODONTITIS.