rs587783604

Orientation

plus

Stabilized

plus

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

Make rs587783604(-;-)

Make rs587783604(-;TCTCA)

Make rs587783604(TCTCA;TCTCA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48524063

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783604
dbSNP (classic)	rs587783604
ClinGen	rs587783604
ebi	rs587783604
HLI	rs587783604
Exac	rs587783604
Gnomad	rs587783604
Varsome	rs587783604
LitVar	rs587783604
Map	rs587783604
PheGenI	rs587783604
Biobank	rs587783604
1000 genomes	rs587783604
hgdp	rs587783604
ensembl	rs587783604
geneview	rs587783604
scholar	rs587783604
google	rs587783604
pharmgkb	rs587783604
gwascentral	rs587783604
openSNP	rs587783604
23andMe	rs587783604
SNPshot	rs587783604
SNPdbe	rs587783604
MSV3d	rs587783604
GWAS Ctlg	rs587783604

Max Magnitude

0

ClinVar
Risk	rs587783604(-;-)
Alt	rs587783604(-;-)
Reference	Rs587783604(ATCTC;ATCTC)
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.48382451_48382455delTCTCA
CLNSRC
CLNACC	RCV000145928.1,