Rs104894798

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104894798
PheGenI	rs104894798
nextbio	rs104894798
hapmap	rs104894798
1000 genomes	rs104894798
hgdp	rs104894798
ensembl	rs104894798
gopubmed	rs104894798
geneview	rs104894798
scholar	rs104894798
google	rs104894798
pharmgkb	rs104894798
gwascentral	rs104894798
openSNP	rs104894798
23andMe	rs104894798
23andMe all	rs104894798
SNP Nexus
SNPshot	rs104894798
SNPdbe	rs104894798
MSV3d	rs104894798

Gene

EBP

Chromosome

X

Orientation

plus

Position

48382246

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs104894798(A;A)

Make rs104894798(A;G)

OMIM	300205
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894798(A;A)
Normal	rs104894798(G;G)
Significance	5
Disease	Chondrodysplasia punctata 2 X-linked dominant
ClinVar	info
Gene	EBP
CLNDBN	Chondrodysplasia punctata 2 X-linked dominant
Reversed	0
CLNHGVS	NC_000023.10:g.48382246G>A
CLNSRC	OMIM Allelic Variant