rs28937869

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	2.5	carrier for Ehlers-Danlos syndrome
(T;T)	4	Ehlers-Danlos syndrome

Reference

GRCh38 38.1/141

Chromosome

5

Position

177608994

Gene

B4GALT7

is a	snp
is	mentioned by
dbSNP	rs28937869
dbSNP (classic)	rs28937869
ClinGen	rs28937869
ebi	rs28937869
HLI	rs28937869
Exac	rs28937869
Gnomad	rs28937869
Varsome	rs28937869
LitVar	rs28937869
Map	rs28937869
PheGenI	rs28937869
Biobank	rs28937869
1000 genomes	rs28937869
hgdp	rs28937869
ensembl	rs28937869
geneview	rs28937869
scholar	rs28937869
google	rs28937869
pharmgkb	rs28937869
gwascentral	rs28937869
openSNP	rs28937869
23andMe	rs28937869
SNPshot	rs28937869
SNPdbe	rs28937869
MSV3d	rs28937869
GWAS Ctlg	rs28937869

Max Magnitude

4

OMIM	604327
Desc	EHLERS-DANLOS SYNDROME, PROGEROID FORM
Variant	0003
Related	also

ClinVar
Risk	Rs28937869(T;T)
Alt	Rs28937869(T;T)
Reference	Rs28937869(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome progeroid type Multiple joint dislocations not provided
Variation	info
Gene	B4GALT7
CLNDBN	Ehlers-Danlos syndrome progeroid type Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects not provided
Reversed	0
HGVS	NC_000005.9:g.177035995C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005965.6, RCV000258718.1, RCV000413846.1,