rs28928891

Orientation

plus

Stabilized

plus

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

Make rs28928891(A;C)

Make rs28928891(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

176094662

Gene

HOXD13

is a	snp
is	mentioned by
dbSNP	rs28928891
dbSNP (classic)	rs28928891
ClinGen	rs28928891
ebi	rs28928891
HLI	rs28928891
Exac	rs28928891
Gnomad	rs28928891
Varsome	rs28928891
LitVar	rs28928891
Map	rs28928891
PheGenI	rs28928891
Biobank	rs28928891
1000 genomes	rs28928891
hgdp	rs28928891
ensembl	rs28928891
geneview	rs28928891
scholar	rs28928891
google	rs28928891
pharmgkb	rs28928891
gwascentral	rs28928891
openSNP	rs28928891
23andMe	rs28928891
SNPshot	rs28928891
SNPdbe	rs28928891
MSV3d	rs28928891
GWAS Ctlg	rs28928891

Max Magnitude

0

OMIM	142989
Desc	BRACHYDACTYLY, TYPE E
Variant	0004
Related	also

ClinVar
Risk	rs28928891(C;C) rs28928891(G;G)
Alt	rs28928891(C;C) rs28928891(G;G)
Reference	Rs28928891(A;A)
Significance	Pathogenic
Disease	Brachydactyly type E1 Brachydactyly type D
Variation	info
Gene	HOXD13
CLNDBN	Brachydactyly type E1 Brachydactyly type D
Reversed	0
HGVS	NC_000002.11:g.176959390A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015995.26, RCV000015996.27,