rs104894793

Orientation

plus

Stabilized

plus

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

Make rs104894793(C;T)

Make rs104894793(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48528287

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs104894793
dbSNP (classic)	rs104894793
ClinGen	rs104894793
ebi	rs104894793
HLI	rs104894793
Exac	rs104894793
Gnomad	rs104894793
Varsome	rs104894793
LitVar	rs104894793
Map	rs104894793
PheGenI	rs104894793
Biobank	rs104894793
1000 genomes	rs104894793
hgdp	rs104894793
ensembl	rs104894793
geneview	rs104894793
scholar	rs104894793
google	rs104894793
pharmgkb	rs104894793
gwascentral	rs104894793
openSNP	rs104894793
23andMe	rs104894793
SNPshot	rs104894793
SNPdbe	rs104894793
MSV3d	rs104894793
GWAS Ctlg	rs104894793

Max Magnitude

0

OMIM	300205
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894793(T;T)
Alt	rs104894793(T;T)
Reference	Rs104894793(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.48386675C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012245.24,