rs121909348

Orientation

minus

Stabilized

minus

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

Make rs121909348(G;G)

Make rs121909348(G;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

35433954

Gene

GDF5

is a	snp
is	mentioned by
dbSNP	rs121909348
dbSNP (classic)	rs121909348
ClinGen	rs121909348
ebi	rs121909348
HLI	rs121909348
Exac	rs121909348
Gnomad	rs121909348
Varsome	rs121909348
LitVar	rs121909348
Map	rs121909348
PheGenI	rs121909348
Biobank	rs121909348
1000 genomes	rs121909348
hgdp	rs121909348
ensembl	rs121909348
geneview	rs121909348
scholar	rs121909348
google	rs121909348
pharmgkb	rs121909348
gwascentral	rs121909348
openSNP	rs121909348
23andMe	rs121909348
SNPshot	rs121909348
SNPdbe	rs121909348
MSV3d	rs121909348
GWAS Ctlg	rs121909348

Max Magnitude

0

OMIM	601146
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121909348(G;G)
Alt	rs121909348(G;G)
Reference	Rs121909348(T;T)
Significance	Pathogenic
Disease	Brachydactyly type C
Variation	info
Gene	GDF5
CLNDBN	Brachydactyly type C
Reversed	1
HGVS	NC_000020.10:g.34021752A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008899.2,