rs397514721

Orientation

minus

Stabilized

minus

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

Make rs397514721(A;T)

Make rs397514721(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

1233203

Gene	B3GALT6, SDF4

is a	snp
is	mentioned by
dbSNP	rs397514721
dbSNP (classic)	rs397514721
ClinGen	rs397514721
ebi	rs397514721
HLI	rs397514721
Exac	rs397514721
Gnomad	rs397514721
Varsome	rs397514721
LitVar	rs397514721
Map	rs397514721
PheGenI	rs397514721
Biobank	rs397514721
1000 genomes	rs397514721
hgdp	rs397514721
ensembl	rs397514721
geneview	rs397514721
scholar	rs397514721
google	rs397514721
pharmgkb	rs397514721
gwascentral	rs397514721
openSNP	rs397514721
23andMe	rs397514721
SNPshot	rs397514721
SNPdbe	rs397514721
MSV3d	rs397514721
GWAS Ctlg	rs397514721

Max Magnitude

0

ClinVar
Risk	rs397514721(T;T)
Alt	rs397514721(T;T)
Reference	Rs397514721(A;A)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	B3GALT6 SDF4
CLNDBN	Ehlers-Danlos syndrome, progeroid type, 2
Reversed	1
HGVS	NC_000001.10:g.1168583T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054397.5,