rs587783611

Orientation

plus

Stabilized

plus

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

Make rs587783611(A;A)

Make rs587783611(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48527001

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783611
dbSNP (classic)	rs587783611
ClinGen	rs587783611
ebi	rs587783611
HLI	rs587783611
Exac	rs587783611
Gnomad	rs587783611
Varsome	rs587783611
LitVar	rs587783611
Map	rs587783611
PheGenI	rs587783611
Biobank	rs587783611
1000 genomes	rs587783611
hgdp	rs587783611
ensembl	rs587783611
geneview	rs587783611
scholar	rs587783611
google	rs587783611
pharmgkb	rs587783611
gwascentral	rs587783611
openSNP	rs587783611
23andMe	rs587783611
SNPshot	rs587783611
SNPdbe	rs587783611
MSV3d	rs587783611
GWAS Ctlg	rs587783611

Max Magnitude

0

ClinVar
Risk	rs587783611(A;A)
Alt	rs587783611(A;A)
Reference	Rs587783611(C;C)
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.48385389C>A
CLNSRC
CLNACC	RCV000145935.1,