rs1057519033

Orientation

plus

Stabilized

plus

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

Make rs1057519033(C;T)

Make rs1057519033(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

68839664

Gene

EFNB1

is a	snp
is	mentioned by
dbSNP	rs1057519033
dbSNP (classic)	rs1057519033
ClinGen	rs1057519033
ebi	rs1057519033
HLI	rs1057519033
Exac	rs1057519033
Gnomad	rs1057519033
Varsome	rs1057519033
LitVar	rs1057519033
Map	rs1057519033
PheGenI	rs1057519033
Biobank	rs1057519033
1000 genomes	rs1057519033
hgdp	rs1057519033
ensembl	rs1057519033
geneview	rs1057519033
scholar	rs1057519033
google	rs1057519033
pharmgkb	rs1057519033
gwascentral	rs1057519033
openSNP	rs1057519033
23andMe	rs1057519033
SNPshot	rs1057519033
SNPdbe	rs1057519033
MSV3d	rs1057519033
GWAS Ctlg	rs1057519033

Max Magnitude

0

ClinVar
Risk	rs1057519033(T;T)
Alt	rs1057519033(T;T)
Reference	Rs1057519033(C;C)
Significance	Probable-Pathogenic
Disease	Craniofrontonasal dysplasia
Variation	info
Gene	EFNB1
CLNDBN	Craniofrontonasal dysplasia
Reversed	0
HGVS	NC_000023.10:g.68059507C>T
CLNSRC
CLNACC	RCV000415481.1,