rs74315387

Orientation

minus

Stabilized

minus

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

Make rs74315387(A;A)

Make rs74315387(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

35434216

Gene

GDF5

is a	snp
is	mentioned by
dbSNP	rs74315387
dbSNP (classic)	rs74315387
ClinGen	rs74315387
ebi	rs74315387
HLI	rs74315387
Exac	rs74315387
Gnomad	rs74315387
Varsome	rs74315387
LitVar	rs74315387
Map	rs74315387
PheGenI	rs74315387
Biobank	rs74315387
1000 genomes	rs74315387
hgdp	rs74315387
ensembl	rs74315387
geneview	rs74315387
scholar	rs74315387
google	rs74315387
pharmgkb	rs74315387
gwascentral	rs74315387
openSNP	rs74315387
23andMe	rs74315387
SNPshot	rs74315387
SNPdbe	rs74315387
MSV3d	rs74315387
GWAS Ctlg	rs74315387

Max Magnitude

0

OMIM	601146
Desc
Variant	0003
Related	also

ClinVar
Risk	rs74315387(A;A)
Alt	rs74315387(A;A)
Reference	Rs74315387(G;G)
Significance	Pathogenic
Disease	Grebe syndrome
Variation	info
Gene	GDF5
CLNDBN	Grebe syndrome
Reversed	1
HGVS	NC_000020.10:g.34022014C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008885.2,