rs104894800

Orientation

plus

Stabilized

plus

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

Make rs104894800(A;A)

Make rs104894800(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48524009

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs104894800
dbSNP (classic)	rs104894800
ClinGen	rs104894800
ebi	rs104894800
HLI	rs104894800
Exac	rs104894800
Gnomad	rs104894800
Varsome	rs104894800
LitVar	rs104894800
Map	rs104894800
PheGenI	rs104894800
Biobank	rs104894800
1000 genomes	rs104894800
hgdp	rs104894800
ensembl	rs104894800
geneview	rs104894800
scholar	rs104894800
google	rs104894800
pharmgkb	rs104894800
gwascentral	rs104894800
openSNP	rs104894800
23andMe	rs104894800
SNPshot	rs104894800
SNPdbe	rs104894800
MSV3d	rs104894800
GWAS Ctlg	rs104894800

Merged from

Rs28936073

Max Magnitude

0

OMIM	300205
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894800(A;A)
Alt	rs104894800(A;A)
Reference	Rs104894800(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.48382397G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012240.26,