rs28935174

Orientation

plus

Stabilized

plus

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

Make rs28935174(A;A)

Make rs28935174(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48527256

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs28935174
dbSNP (classic)	rs28935174
ClinGen	rs28935174
ebi	rs28935174
HLI	rs28935174
Exac	rs28935174
Gnomad	rs28935174
Varsome	rs28935174
LitVar	rs28935174
Map	rs28935174
PheGenI	rs28935174
Biobank	rs28935174
1000 genomes	rs28935174
hgdp	rs28935174
ensembl	rs28935174
geneview	rs28935174
scholar	rs28935174
google	rs28935174
pharmgkb	rs28935174
gwascentral	rs28935174
openSNP	rs28935174
23andMe	rs28935174
SNPshot	rs28935174
SNPdbe	rs28935174
MSV3d	rs28935174
GWAS Ctlg	rs28935174

Max Magnitude

0

OMIM	300205
Desc	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
Variant	0012
Related	also

?	(A;G) (G;G)

ClinVar
Risk	rs28935174(A;A)
Alt	rs28935174(A;A)
Reference	Rs28935174(G;G)
Significance	Pathogenic
Disease	Chondrodysplasia punctata 2 X-linked dominant
Variation	info
Gene	EBP
CLNDBN	Chondrodysplasia punctata 2 X-linked dominant
Reversed	0
HGVS	NC_000023.10:g.48385644G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012247.12,