rs28928892

Orientation

plus

Stabilized

plus

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

Make rs28928892(C;G)

Make rs28928892(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

176094645

Gene

HOXD13

is a	snp
is	mentioned by
dbSNP	rs28928892
dbSNP (classic)	rs28928892
ClinGen	rs28928892
ebi	rs28928892
HLI	rs28928892
Exac	rs28928892
Gnomad	rs28928892
Varsome	rs28928892
LitVar	rs28928892
Map	rs28928892
PheGenI	rs28928892
Biobank	rs28928892
1000 genomes	rs28928892
hgdp	rs28928892
ensembl	rs28928892
geneview	rs28928892
scholar	rs28928892
google	rs28928892
pharmgkb	rs28928892
gwascentral	rs28928892
openSNP	rs28928892
23andMe	rs28928892
SNPshot	rs28928892
SNPdbe	rs28928892
MSV3d	rs28928892
GWAS Ctlg	rs28928892

Max Magnitude

0

OMIM	142989
Desc	BRACHYDACTYLY, TYPE E
Variant	0005
Related	also

ClinVar
Risk	rs28928892(A;A) rs28928892(G;G)
Alt	rs28928892(A;A) rs28928892(G;G)
Reference	Rs28928892(C;C)
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.176959373C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015997.25, RCV000015998.26,