rs74315388

Orientation

minus

Stabilized

minus

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

Make rs74315388(G;T)

Make rs74315388(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

35434102

Gene

GDF5

is a	snp
is	mentioned by
dbSNP	rs74315388
dbSNP (classic)	rs74315388
ClinGen	rs74315388
ebi	rs74315388
HLI	rs74315388
Exac	rs74315388
Gnomad	rs74315388
Varsome	rs74315388
LitVar	rs74315388
Map	rs74315388
PheGenI	rs74315388
Biobank	rs74315388
1000 genomes	rs74315388
hgdp	rs74315388
ensembl	rs74315388
geneview	rs74315388
scholar	rs74315388
google	rs74315388
pharmgkb	rs74315388
gwascentral	rs74315388
openSNP	rs74315388
23andMe	rs74315388
SNPshot	rs74315388
SNPdbe	rs74315388
MSV3d	rs74315388
GWAS Ctlg	rs74315388

Max Magnitude

0

OMIM	601146
Desc
Variant	0011
Related	also

ClinVar
Risk	rs74315388(T;T)
Alt	rs74315388(T;T)
Reference	Rs74315388(G;G)
Significance	Pathogenic
Disease	Symphalangism Multiple synostoses syndrome 2
Variation	info
Gene	GDF5
CLNDBN	Symphalangism, proximal, 1b Multiple synostoses syndrome 2
Reversed	1
HGVS	NC_000020.10:g.34021900C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008893.3, RCV000008894.3,