rs587783612

Orientation

plus

Stabilized

plus

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

Make rs587783612(A;A)

Make rs587783612(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48527007

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs587783612
dbSNP (classic)	rs587783612
ClinGen	rs587783612
ebi	rs587783612
HLI	rs587783612
Exac	rs587783612
Gnomad	rs587783612
Varsome	rs587783612
LitVar	rs587783612
Map	rs587783612
PheGenI	rs587783612
Biobank	rs587783612
1000 genomes	rs587783612
hgdp	rs587783612
ensembl	rs587783612
geneview	rs587783612
scholar	rs587783612
google	rs587783612
pharmgkb	rs587783612
gwascentral	rs587783612
openSNP	rs587783612
23andMe	rs587783612
SNPshot	rs587783612
SNPdbe	rs587783612
MSV3d	rs587783612
GWAS Ctlg	rs587783612

Max Magnitude

0

ClinVar
Risk	rs587783612(A;A) rs587783612(C;C)
Alt	rs587783612(A;A) rs587783612(C;C)
Reference	Rs587783612(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.48385395G>A
CLNSRC
CLNACC	RCV000145936.1,