rs397514723

Orientation

minus

Stabilized

minus

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

Make rs397514723(C;G)

Make rs397514723(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

1232897

Gene	B3GALT6, SDF4

is a	snp
is	mentioned by
dbSNP	rs397514723
dbSNP (classic)	rs397514723
ClinGen	rs397514723
ebi	rs397514723
HLI	rs397514723
Exac	rs397514723
Gnomad	rs397514723
Varsome	rs397514723
LitVar	rs397514723
Map	rs397514723
PheGenI	rs397514723
Biobank	rs397514723
1000 genomes	rs397514723
hgdp	rs397514723
ensembl	rs397514723
geneview	rs397514723
scholar	rs397514723
google	rs397514723
pharmgkb	rs397514723
gwascentral	rs397514723
openSNP	rs397514723
23andMe	rs397514723
SNPshot	rs397514723
SNPdbe	rs397514723
MSV3d	rs397514723
GWAS Ctlg	rs397514723

Max Magnitude

0

ClinVar
Risk	rs397514723(G;G)
Alt	rs397514723(G;G)
Reference	Rs397514723(C;C)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia with joint laxity
Variation	info
Gene	B3GALT6 SDF4
CLNDBN	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
Reversed	1
HGVS	NC_000001.10:g.1168277G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054401.6,