rs121917817

Orientation

plus

Stabilized

plus

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

Make rs121917817(A;A)

Make rs121917817(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177607445

Gene

B4GALT7

is a	snp
is	mentioned by
dbSNP	rs121917817
dbSNP (classic)	rs121917817
ClinGen	rs121917817
ebi	rs121917817
HLI	rs121917817
Exac	rs121917817
Gnomad	rs121917817
Varsome	rs121917817
LitVar	rs121917817
Map	rs121917817
PheGenI	rs121917817
Biobank	rs121917817
1000 genomes	rs121917817
hgdp	rs121917817
ensembl	rs121917817
geneview	rs121917817
scholar	rs121917817
google	rs121917817
pharmgkb	rs121917817
gwascentral	rs121917817
openSNP	rs121917817
23andMe	rs121917817
SNPshot	rs121917817
SNPdbe	rs121917817
MSV3d	rs121917817
GWAS Ctlg	rs121917817

Max Magnitude

0

ClinVar
Risk	rs121917817(A;A)
Alt	rs121917817(A;A)
Reference	Rs121917817(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome progeroid type
Variation	info
Gene	B4GALT7
CLNDBN	Ehlers-Danlos syndrome progeroid type
Reversed	0
HGVS	NC_000005.9:g.177034446C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005963.6,