rs1057519034

Orientation

plus

Stabilized

plus

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

Make rs1057519034(C;T)

Make rs1057519034(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

68839723

Gene

EFNB1

is a	snp
is	mentioned by
dbSNP	rs1057519034
dbSNP (classic)	rs1057519034
ClinGen	rs1057519034
ebi	rs1057519034
HLI	rs1057519034
Exac	rs1057519034
Gnomad	rs1057519034
Varsome	rs1057519034
LitVar	rs1057519034
Map	rs1057519034
PheGenI	rs1057519034
Biobank	rs1057519034
1000 genomes	rs1057519034
hgdp	rs1057519034
ensembl	rs1057519034
geneview	rs1057519034
scholar	rs1057519034
google	rs1057519034
pharmgkb	rs1057519034
gwascentral	rs1057519034
openSNP	rs1057519034
23andMe	rs1057519034
SNPshot	rs1057519034
SNPdbe	rs1057519034
MSV3d	rs1057519034
GWAS Ctlg	rs1057519034

Max Magnitude

0

ClinVar
Risk	rs1057519034(T;T)
Alt	rs1057519034(T;T)
Reference	Rs1057519034(C;C)
Significance	Probable-Pathogenic
Disease	Craniofrontonasal dysplasia
Variation	info
Gene	EFNB1
CLNDBN	Craniofrontonasal dysplasia
Reversed	0
HGVS	NC_000023.10:g.68059566C>T
CLNSRC
CLNACC	RCV000415493.1,