rs397514519

Orientation

minus

Stabilized

minus

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

Make rs397514519(C;T)

Make rs397514519(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

35434220

Gene

GDF5

is a	snp
is	mentioned by
dbSNP	rs397514519
dbSNP (classic)	rs397514519
ClinGen	rs397514519
ebi	rs397514519
HLI	rs397514519
Exac	rs397514519
Gnomad	rs397514519
Varsome	rs397514519
LitVar	rs397514519
Map	rs397514519
PheGenI	rs397514519
Biobank	rs397514519
1000 genomes	rs397514519
hgdp	rs397514519
ensembl	rs397514519
geneview	rs397514519
scholar	rs397514519
google	rs397514519
pharmgkb	rs397514519
gwascentral	rs397514519
openSNP	rs397514519
23andMe	rs397514519
SNPshot	rs397514519
SNPdbe	rs397514519
MSV3d	rs397514519
GWAS Ctlg	rs397514519

Max Magnitude

0

ClinVar
Risk	rs397514519(T;T)
Alt	rs397514519(T;T)
Reference	Rs397514519(C;C)
Significance	Pathogenic
Disease	Brachydactyly
Variation	info
Gene	GDF5
CLNDBN	Brachydactyly, type a1, c
Reversed	1
HGVS	NC_000020.10:g.34022018G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032711.2,