rs104894794

Orientation

plus

Stabilized

plus

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

Make rs104894794(A;A)

Make rs104894794(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48528351

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs104894794
dbSNP (classic)	rs104894794
ClinGen	rs104894794
ebi	rs104894794
HLI	rs104894794
Exac	rs104894794
Gnomad	rs104894794
Varsome	rs104894794
LitVar	rs104894794
Map	rs104894794
PheGenI	rs104894794
Biobank	rs104894794
1000 genomes	rs104894794
hgdp	rs104894794
ensembl	rs104894794
geneview	rs104894794
scholar	rs104894794
google	rs104894794
pharmgkb	rs104894794
gwascentral	rs104894794
openSNP	rs104894794
23andMe	rs104894794
SNPshot	rs104894794
SNPdbe	rs104894794
MSV3d	rs104894794
GWAS Ctlg	rs104894794

Max Magnitude

0

OMIM	300205
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894794(A;A)
Alt	rs104894794(A;A)
Reference	Rs104894794(G;G)
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.48386739G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012246.24,