rs587783603

Orientation

plus

Stabilized

plus

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

Make rs587783603(A;A)

Make rs587783603(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48523989

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783603
dbSNP (classic)	rs587783603
ClinGen	rs587783603
ebi	rs587783603
HLI	rs587783603
Exac	rs587783603
Gnomad	rs587783603
Varsome	rs587783603
LitVar	rs587783603
Map	rs587783603
PheGenI	rs587783603
Biobank	rs587783603
1000 genomes	rs587783603
hgdp	rs587783603
ensembl	rs587783603
geneview	rs587783603
scholar	rs587783603
google	rs587783603
pharmgkb	rs587783603
gwascentral	rs587783603
openSNP	rs587783603
23andMe	rs587783603
SNPshot	rs587783603
SNPdbe	rs587783603
MSV3d	rs587783603
GWAS Ctlg	rs587783603

Max Magnitude

0

ClinVar
Risk	rs587783603(A;A)
Alt	rs587783603(A;A)
Reference	Rs587783603(G;G)
Significance	Probable-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.48382377G>A
CLNSRC
CLNACC	RCV000145927.1,