rs587783607

Orientation

plus

Stabilized

plus

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

Make rs587783607(G;T)

Make rs587783607(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48526990

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783607
dbSNP (classic)	rs587783607
ClinGen	rs587783607
ebi	rs587783607
HLI	rs587783607
Exac	rs587783607
Gnomad	rs587783607
Varsome	rs587783607
LitVar	rs587783607
Map	rs587783607
PheGenI	rs587783607
Biobank	rs587783607
1000 genomes	rs587783607
hgdp	rs587783607
ensembl	rs587783607
geneview	rs587783607
scholar	rs587783607
google	rs587783607
pharmgkb	rs587783607
gwascentral	rs587783607
openSNP	rs587783607
23andMe	rs587783607
SNPshot	rs587783607
SNPdbe	rs587783607
MSV3d	rs587783607
GWAS Ctlg	rs587783607

Max Magnitude

0

ClinVar
Risk	rs587783607(T;T)
Alt	rs587783607(T;T)
Reference	Rs587783607(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.48385378G>T
CLNSRC
CLNACC	RCV000145931.1,