rs141925556

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	1	Likely to be a benign variant

Make rs141925556(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

48528275

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs141925556
dbSNP (classic)	rs141925556
ClinGen	rs141925556
ebi	rs141925556
HLI	rs141925556
Exac	rs141925556
Gnomad	rs141925556
Varsome	rs141925556
LitVar	rs141925556
Map	rs141925556
PheGenI	rs141925556
Biobank	rs141925556
1000 genomes	rs141925556
hgdp	rs141925556
ensembl	rs141925556
geneview	rs141925556
scholar	rs141925556
google	rs141925556
pharmgkb	rs141925556
gwascentral	rs141925556
openSNP	rs141925556
23andMe	rs141925556
SNPshot	rs141925556
SNPdbe	rs141925556
MSV3d	rs141925556
GWAS Ctlg	rs141925556

Max Magnitude

1

aka c.511C>T (p.Arg171Cys)

ClinVar indicates that this variant is likely to be benign.

ClinVar
Risk	rs141925556(T;T)
Alt	rs141925556(T;T)
Reference	Rs141925556(C;C)
Significance	Probable-Pathogenic
Disease	Chondrodysplasia punctata 2 X-linked dominant not provided not specified
Variation	info
Gene	EBP
CLNDBN	Chondrodysplasia punctata 2 X-linked dominant not provided not specified
Reversed	0
HGVS	NC_000023.10:g.48386663C>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000145943.1, RCV000171436.1, RCV000439113.1,