rs587783613

Orientation

plus

Stabilized

plus

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

Make rs587783613(C;T)

Make rs587783613(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48527015

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783613
dbSNP (classic)	rs587783613
ClinGen	rs587783613
ebi	rs587783613
HLI	rs587783613
Exac	rs587783613
Gnomad	rs587783613
Varsome	rs587783613
LitVar	rs587783613
Map	rs587783613
PheGenI	rs587783613
Biobank	rs587783613
1000 genomes	rs587783613
hgdp	rs587783613
ensembl	rs587783613
geneview	rs587783613
scholar	rs587783613
google	rs587783613
pharmgkb	rs587783613
gwascentral	rs587783613
openSNP	rs587783613
23andMe	rs587783613
SNPshot	rs587783613
SNPdbe	rs587783613
MSV3d	rs587783613
GWAS Ctlg	rs587783613

Max Magnitude

0

ClinVar
Risk	rs587783613(T;T)
Alt	rs587783613(T;T)
Reference	Rs587783613(C;C)
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.48385403C>T
CLNSRC
CLNACC	RCV000145937.1,