rs143384

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs143384(C;C)

Make rs143384(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

35437976

Gene

GDF5

is a	snp
is	mentioned by
dbSNP	rs143384
dbSNP (classic)	rs143384
ClinGen	rs143384
ebi	rs143384
HLI	rs143384
Exac	rs143384
Gnomad	rs143384
Varsome	rs143384
LitVar	rs143384
Map	rs143384
PheGenI	rs143384
Biobank	rs143384
1000 genomes	rs143384
hgdp	rs143384
ensembl	rs143384
geneview	rs143384
scholar	rs143384
google	rs143384
pharmgkb	rs143384
gwascentral	rs143384
openSNP	rs143384
23andMe	rs143384
SNPshot	rs143384
SNPdbe	rs143384
MSV3d	rs143384
GWAS Ctlg	rs143384

GMAF

0.4862

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 20633687] Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population

[PMID 21233139] Genetic contributions to the association between adult height and testicular germ cell tumors

[PMID 21642387] Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation.

GWAS snp
PMID	[PMID 20881960]
Trait	Height
Title	Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Risk Allele	A
P-val	1E-58
Odds Ratio	.06 [NR] unit decrease

ClinVar
Risk	rs143384(C;C)
Alt	rs143384(C;C)
Reference	Rs143384(T;T)
Significance	Non-pathogenic
Disease	not specified Chondrodysplasia Brachydactyly Symphalangism-brachydactyly syndrome Acromesomelic Dysplasia Fibular hypoplasia and complex brachydactyly
Variation	info
Gene	GDF5
CLNDBN	not specified Chondrodysplasia Brachydactyly Symphalangism-brachydactyly syndrome Acromesomelic Dysplasia Fibular hypoplasia and complex brachydactyly
Reversed	1
HGVS	NC_000020.10:g.34025756A>G
CLNSRC
CLNACC	RCV000244517.1, RCV000310404.1, RCV000314053.1, RCV000344209.1, RCV000407339.1, RCV000407346.1,