rs753594601

Orientation

plus

Stabilized

plus

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

Make rs753594601(A;A)

Make rs753594601(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

177608540

Gene

B4GALT7

is a	snp
is	mentioned by
dbSNP	rs753594601
dbSNP (classic)	rs753594601
ClinGen	rs753594601
ebi	rs753594601
HLI	rs753594601
Exac	rs753594601
Gnomad	rs753594601
Varsome	rs753594601
LitVar	rs753594601
Map	rs753594601
PheGenI	rs753594601
Biobank	rs753594601
1000 genomes	rs753594601
hgdp	rs753594601
ensembl	rs753594601
geneview	rs753594601
scholar	rs753594601
google	rs753594601
pharmgkb	rs753594601
gwascentral	rs753594601
openSNP	rs753594601
23andMe	rs753594601
SNPshot	rs753594601
SNPdbe	rs753594601
MSV3d	rs753594601
GWAS Ctlg	rs753594601

Max Magnitude

0

ClinVar
Risk	rs753594601(A;A)
Alt	rs753594601(A;A)
Reference	Rs753594601(G;G)
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.177035541G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239469.1,