rs104894803

Orientation

plus

Stabilized

plus

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

Make rs104894803(A;A)

Make rs104894803(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

68829886

Gene

EFNB1

is a	snp
is	mentioned by
dbSNP	rs104894803
dbSNP (classic)	rs104894803
ClinGen	rs104894803
ebi	rs104894803
HLI	rs104894803
Exac	rs104894803
Gnomad	rs104894803
Varsome	rs104894803
LitVar	rs104894803
Map	rs104894803
PheGenI	rs104894803
Biobank	rs104894803
1000 genomes	rs104894803
hgdp	rs104894803
ensembl	rs104894803
geneview	rs104894803
scholar	rs104894803
google	rs104894803
pharmgkb	rs104894803
gwascentral	rs104894803
openSNP	rs104894803
23andMe	rs104894803
SNPshot	rs104894803
SNPdbe	rs104894803
MSV3d	rs104894803
GWAS Ctlg	rs104894803

Max Magnitude

0

OMIM	300035
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894803(A;A)
Alt	rs104894803(A;A)
Reference	Rs104894803(G;G)
Significance	Pathogenic
Disease	Craniofrontonasal dysplasia
Variation	info
Gene	EFNB1
CLNDBN	Craniofrontonasal dysplasia
Reversed	0
HGVS	NC_000023.10:g.68049729G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012480.22,