rs28936071

Orientation

plus

Stabilized

plus

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

Make rs28936071(A;G)

Make rs28936071(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

68839729

Gene

EFNB1

is a	snp
is	mentioned by
dbSNP	rs28936071
dbSNP (classic)	rs28936071
ClinGen	rs28936071
ebi	rs28936071
HLI	rs28936071
Exac	rs28936071
Gnomad	rs28936071
Varsome	rs28936071
LitVar	rs28936071
Map	rs28936071
PheGenI	rs28936071
Biobank	rs28936071
1000 genomes	rs28936071
hgdp	rs28936071
ensembl	rs28936071
geneview	rs28936071
scholar	rs28936071
google	rs28936071
pharmgkb	rs28936071
gwascentral	rs28936071
openSNP	rs28936071
23andMe	rs28936071
SNPshot	rs28936071
SNPdbe	rs28936071
MSV3d	rs28936071
GWAS Ctlg	rs28936071

Max Magnitude

0

OMIM	300035
Desc	CRANIOFRONTONASAL SYNDROME
Variant	0006
Related	also

ClinVar
Risk	rs28936071(G;G)
Alt	rs28936071(G;G)
Reference	Rs28936071(A;A)
Significance	Pathogenic
Disease	Craniofrontonasal dysplasia
Variation	info
Gene	EFNB1
CLNDBN	Craniofrontonasal dysplasia
Reversed	0
HGVS	NC_000023.10:g.68059572A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012477.22,