rs121909347

Orientation

minus

Stabilized

minus

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

Make rs121909347(A;A)

Make rs121909347(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

35433991

Gene

GDF5

is a	snp
is	mentioned by
dbSNP	rs121909347
dbSNP (classic)	rs121909347
ClinGen	rs121909347
ebi	rs121909347
HLI	rs121909347
Exac	rs121909347
Gnomad	rs121909347
Varsome	rs121909347
LitVar	rs121909347
Map	rs121909347
PheGenI	rs121909347
Biobank	rs121909347
1000 genomes	rs121909347
hgdp	rs121909347
ensembl	rs121909347
geneview	rs121909347
scholar	rs121909347
google	rs121909347
pharmgkb	rs121909347
gwascentral	rs121909347
openSNP	rs121909347
23andMe	rs121909347
SNPshot	rs121909347
SNPdbe	rs121909347
MSV3d	rs121909347
GWAS Ctlg	rs121909347

Max Magnitude

0

OMIM	601146
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121909347(A;A)
Alt	rs121909347(A;A)
Reference	Rs121909347(G;G)
Significance	Pathogenic
Disease	Multiple synostoses syndrome 2
Variation	info
Gene	GDF5
CLNDBN	Multiple synostoses syndrome 2
Reversed	1
HGVS	NC_000020.10:g.34021789C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008896.2,