rs387907239

Orientation

minus

Stabilized

minus

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

Make rs387907239(C;T)

Make rs387907239(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

48529834

Gene

HOXB1

is a	snp
is	mentioned by
dbSNP	rs387907239
dbSNP (classic)	rs387907239
ClinGen	rs387907239
ebi	rs387907239
HLI	rs387907239
Exac	rs387907239
Gnomad	rs387907239
Varsome	rs387907239
LitVar	rs387907239
Map	rs387907239
PheGenI	rs387907239
Biobank	rs387907239
1000 genomes	rs387907239
hgdp	rs387907239
ensembl	rs387907239
geneview	rs387907239
scholar	rs387907239
google	rs387907239
pharmgkb	rs387907239
gwascentral	rs387907239
openSNP	rs387907239
23andMe	rs387907239
SNPshot	rs387907239
SNPdbe	rs387907239
MSV3d	rs387907239
GWAS Ctlg	rs387907239

Max Magnitude

0

ClinVar
Risk	rs387907239(T;T)
Alt	rs387907239(T;T)
Reference	Rs387907239(C;C)
Significance	Pathogenic
Disease	Hereditary congenital facial paresis 3
Variation	info
Gene	HOXB1
CLNDBN	Hereditary congenital facial paresis 3
Reversed	1
HGVS	NC_000017.10:g.46607196G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029225.25,