rs587783600

Orientation

plus

Stabilized

plus

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

Make rs587783600(A;A)

Make rs587783600(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48523953

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783600
dbSNP (classic)	rs587783600
ClinGen	rs587783600
ebi	rs587783600
HLI	rs587783600
Exac	rs587783600
Gnomad	rs587783600
Varsome	rs587783600
LitVar	rs587783600
Map	rs587783600
PheGenI	rs587783600
Biobank	rs587783600
1000 genomes	rs587783600
hgdp	rs587783600
ensembl	rs587783600
geneview	rs587783600
scholar	rs587783600
google	rs587783600
pharmgkb	rs587783600
gwascentral	rs587783600
openSNP	rs587783600
23andMe	rs587783600
SNPshot	rs587783600
SNPdbe	rs587783600
MSV3d	rs587783600
GWAS Ctlg	rs587783600

Max Magnitude

0

ClinVar
Risk	rs587783600(A;A)
Alt	rs587783600(A;A)
Reference	Rs587783600(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.48382341G>A
CLNSRC
CLNACC	RCV000145924.1,