rs28936683

Orientation

minus

Stabilized

minus

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

Make rs28936683(C;C)

Make rs28936683(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

35434093

Gene

GDF5

is a	snp
is	mentioned by
dbSNP	rs28936683
dbSNP (classic)	rs28936683
ClinGen	rs28936683
ebi	rs28936683
HLI	rs28936683
Exac	rs28936683
Gnomad	rs28936683
Varsome	rs28936683
LitVar	rs28936683
Map	rs28936683
PheGenI	rs28936683
Biobank	rs28936683
1000 genomes	rs28936683
hgdp	rs28936683
ensembl	rs28936683
geneview	rs28936683
scholar	rs28936683
google	rs28936683
pharmgkb	rs28936683
gwascentral	rs28936683
openSNP	rs28936683
23andMe	rs28936683
SNPshot	rs28936683
SNPdbe	rs28936683
MSV3d	rs28936683
GWAS Ctlg	rs28936683

Max Magnitude

0

OMIM	601146
Desc	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
Variant	0005
Related	also

ClinVar
Risk	rs28936683(C;C)
Alt	rs28936683(C;C)
Reference	Rs28936683(T;T)
Significance	Pathogenic
Disease	Fibular hypoplasia and complex brachydactyly Brachydactyly type A2
Variation	info
Gene	GDF5
CLNDBN	Fibular hypoplasia and complex brachydactyly Brachydactyly type A2
Reversed	1
HGVS	NC_000020.10:g.34021891A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008887.2, RCV000008888.2,