rs28936397

Orientation

minus

Stabilized

minus

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

Make rs28936397(A;G)

Make rs28936397(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

35437412

Gene

GDF5

is a	snp
is	mentioned by
dbSNP	rs28936397
dbSNP (classic)	rs28936397
ClinGen	rs28936397
ebi	rs28936397
HLI	rs28936397
Exac	rs28936397
Gnomad	rs28936397
Varsome	rs28936397
LitVar	rs28936397
Map	rs28936397
PheGenI	rs28936397
Biobank	rs28936397
1000 genomes	rs28936397
hgdp	rs28936397
ensembl	rs28936397
geneview	rs28936397
scholar	rs28936397
google	rs28936397
pharmgkb	rs28936397
gwascentral	rs28936397
openSNP	rs28936397
23andMe	rs28936397
SNPshot	rs28936397
SNPdbe	rs28936397
MSV3d	rs28936397
GWAS Ctlg	rs28936397

Max Magnitude

0

OMIM	601146
Desc	BRACHYDACTYLY, TYPE C
Variant	0008
Related	also

ClinVar
Risk	rs28936397(C;C) rs28936397(G;G)
Alt	rs28936397(C;C) rs28936397(G;G)
Reference	Rs28936397(A;A)
Significance	Pathogenic
Disease	Brachydactyly type C
Variation	info
Gene	GDF5
CLNDBN	Brachydactyly type C
Reversed	1
HGVS	NC_000020.10:g.34025192T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008891.2,