rs28936070

Orientation

plus

Stabilized

plus

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

Make rs28936070(G;T)

Make rs28936070(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

68839709

Gene

EFNB1

is a	snp
is	mentioned by
dbSNP	rs28936070
dbSNP (classic)	rs28936070
ClinGen	rs28936070
ebi	rs28936070
HLI	rs28936070
Exac	rs28936070
Gnomad	rs28936070
Varsome	rs28936070
LitVar	rs28936070
Map	rs28936070
PheGenI	rs28936070
Biobank	rs28936070
1000 genomes	rs28936070
hgdp	rs28936070
ensembl	rs28936070
geneview	rs28936070
scholar	rs28936070
google	rs28936070
pharmgkb	rs28936070
gwascentral	rs28936070
openSNP	rs28936070
23andMe	rs28936070
SNPshot	rs28936070
SNPdbe	rs28936070
MSV3d	rs28936070
GWAS Ctlg	rs28936070

Max Magnitude

0

OMIM	300035
Desc	CRANIOFRONTONASAL SYNDROME
Variant	0005
Related	also

ClinVar
Risk	rs28936070(T;T)
Alt	rs28936070(T;T)
Reference	Rs28936070(G;G)
Significance	Pathogenic
Disease	Craniofrontonasal dysplasia
Variation	info
Gene	EFNB1
CLNDBN	Craniofrontonasal dysplasia
Reversed	0
HGVS	NC_000023.10:g.68059552G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012476.16,