rs587783599

Orientation

plus

Stabilized

plus

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

Make rs587783599(G;T)

Make rs587783599(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48523912

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783599
dbSNP (classic)	rs587783599
ClinGen	rs587783599
ebi	rs587783599
HLI	rs587783599
Exac	rs587783599
Gnomad	rs587783599
Varsome	rs587783599
LitVar	rs587783599
Map	rs587783599
PheGenI	rs587783599
Biobank	rs587783599
1000 genomes	rs587783599
hgdp	rs587783599
ensembl	rs587783599
geneview	rs587783599
scholar	rs587783599
google	rs587783599
pharmgkb	rs587783599
gwascentral	rs587783599
openSNP	rs587783599
23andMe	rs587783599
SNPshot	rs587783599
SNPdbe	rs587783599
MSV3d	rs587783599
GWAS Ctlg	rs587783599

Max Magnitude

0

ClinVar
Risk	rs587783599(T;T)
Alt	rs587783599(T;T)
Reference	Rs587783599(G;G)
Significance	Pathogenic
Disease	Chondrodysplasia punctata 2 X-linked dominant MEND syndrome
Variation	info
Gene	EBP
CLNDBN	Chondrodysplasia punctata 2 X-linked dominant MEND syndrome
Reversed	0
HGVS	NC_000023.10:g.48382300G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000145922.1, RCV000190980.3,