rs17563

minus

Geno	Mag	Summary
(C;C)	2.1	Risk for otosclerosis
(T;T)	0	common in clinvar

Make rs17563(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

53950804

Gene

BMP4

is a	snp
is	mentioned by
dbSNP	rs17563
dbSNP (classic)	rs17563
ClinGen	rs17563
ebi	rs17563
HLI	rs17563
Exac	rs17563
Gnomad	rs17563
Varsome	rs17563
LitVar	rs17563
Map	rs17563
PheGenI	rs17563
Biobank	rs17563
1000 genomes	rs17563
hgdp	rs17563
ensembl	rs17563
geneview	rs17563
scholar	rs17563
google	rs17563
pharmgkb	rs17563
gwascentral	rs17563
openSNP	rs17563
23andMe	rs17563
SNPshot	rs17563
SNPdbe	rs17563
MSV3d	rs17563
GWAS Ctlg	rs17563

GMAF

0.3714

Max Magnitude

2.1

?

(C;C) (C;T) (T;T)

28

[PMID 18021008 ] 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 19011631 ] Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

[PMID 20057906 ] 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 23704328 ]
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 22886282 ] Association of BMPR1A polymorphism, but not BMP4, with kidney size in full-term newborns.

[PMID 25648829 ] 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	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 32211112 ] 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.