rs587783606

Orientation

plus

Stabilized

plus

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

Make rs587783606(A;A)

Make rs587783606(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48524074

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783606
dbSNP (classic)	rs587783606
ClinGen	rs587783606
ebi	rs587783606
HLI	rs587783606
Exac	rs587783606
Gnomad	rs587783606
Varsome	rs587783606
LitVar	rs587783606
Map	rs587783606
PheGenI	rs587783606
Biobank	rs587783606
1000 genomes	rs587783606
hgdp	rs587783606
ensembl	rs587783606
geneview	rs587783606
scholar	rs587783606
google	rs587783606
pharmgkb	rs587783606
gwascentral	rs587783606
openSNP	rs587783606
23andMe	rs587783606
SNPshot	rs587783606
SNPdbe	rs587783606
MSV3d	rs587783606
GWAS Ctlg	rs587783606

Max Magnitude

0

ClinVar
Risk	rs587783606(A;A)
Alt	rs587783606(A;A)
Reference	Rs587783606(T;T)
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.48382462T>A
CLNSRC
CLNACC	RCV000145930.1,