rs104894792

Orientation

plus

Stabilized

plus

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

Make rs104894792(A;A)

Make rs104894792(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48527202

Gene

EBP

is a	snp
is	mentioned by
dbSNP	rs104894792
dbSNP (classic)	rs104894792
ClinGen	rs104894792
ebi	rs104894792
HLI	rs104894792
Exac	rs104894792
Gnomad	rs104894792
Varsome	rs104894792
LitVar	rs104894792
Map	rs104894792
PheGenI	rs104894792
Biobank	rs104894792
1000 genomes	rs104894792
hgdp	rs104894792
ensembl	rs104894792
geneview	rs104894792
scholar	rs104894792
google	rs104894792
pharmgkb	rs104894792
gwascentral	rs104894792
openSNP	rs104894792
23andMe	rs104894792
SNPshot	rs104894792
SNPdbe	rs104894792
MSV3d	rs104894792
GWAS Ctlg	rs104894792

Max Magnitude

0

OMIM	300205
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894792(A;A)
Alt	rs104894792(A;A)
Reference	Rs104894792(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.48385590G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012244.11,