rs121917818

Orientation

plus

Stabilized

plus

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

Make rs121917818(C;C)

Make rs121917818(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177607505

Gene

B4GALT7

is a	snp
is	mentioned by
dbSNP	rs121917818
dbSNP (classic)	rs121917818
ClinGen	rs121917818
ebi	rs121917818
HLI	rs121917818
Exac	rs121917818
Gnomad	rs121917818
Varsome	rs121917818
LitVar	rs121917818
Map	rs121917818
PheGenI	rs121917818
Biobank	rs121917818
1000 genomes	rs121917818
hgdp	rs121917818
ensembl	rs121917818
geneview	rs121917818
scholar	rs121917818
google	rs121917818
pharmgkb	rs121917818
gwascentral	rs121917818
openSNP	rs121917818
23andMe	rs121917818
SNPshot	rs121917818
SNPdbe	rs121917818
MSV3d	rs121917818
GWAS Ctlg	rs121917818

Max Magnitude

0

ClinVar
Risk	rs121917818(C;C)
Alt	rs121917818(C;C)
Reference	Rs121917818(T;T)
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.177034506T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005964.6,