rs28936069

Orientation

plus

Stabilized

plus

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

Make rs28936069(A;A)

Make rs28936069(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

68839708

Gene

EFNB1

is a	snp
is	mentioned by
dbSNP	rs28936069
dbSNP (classic)	rs28936069
ClinGen	rs28936069
ebi	rs28936069
HLI	rs28936069
Exac	rs28936069
Gnomad	rs28936069
Varsome	rs28936069
LitVar	rs28936069
Map	rs28936069
PheGenI	rs28936069
Biobank	rs28936069
1000 genomes	rs28936069
hgdp	rs28936069
ensembl	rs28936069
geneview	rs28936069
scholar	rs28936069
google	rs28936069
pharmgkb	rs28936069
gwascentral	rs28936069
openSNP	rs28936069
23andMe	rs28936069
SNPshot	rs28936069
SNPdbe	rs28936069
MSV3d	rs28936069
GWAS Ctlg	rs28936069

Max Magnitude

0

OMIM	300035
Desc	CRANIOFRONTONASAL SYNDROME
Variant	0004
Related	also

ClinVar
Risk	rs28936069(A;A)
Alt	rs28936069(A;A)
Reference	Rs28936069(G;G)
Significance	Pathogenic
Disease	Craniofrontonasal dysplasia
Variation	info
Gene	EFNB1
CLNDBN	Craniofrontonasal dysplasia
Reversed	0
HGVS	NC_000023.10:g.68059551G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012475.14,