rs748035948

Orientation

plus

Stabilized

plus

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

Make rs748035948(G;T)

Make rs748035948(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

46125265

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs748035948
dbSNP (classic)	rs748035948
ClinGen	rs748035948
ebi	rs748035948
HLI	rs748035948
Exac	rs748035948
Gnomad	rs748035948
Varsome	rs748035948
LitVar	rs748035948
Map	rs748035948
PheGenI	rs748035948
Biobank	rs748035948
1000 genomes	rs748035948
hgdp	rs748035948
ensembl	rs748035948
geneview	rs748035948
scholar	rs748035948
google	rs748035948
pharmgkb	rs748035948
gwascentral	rs748035948
openSNP	rs748035948
23andMe	rs748035948
SNPshot	rs748035948
SNPdbe	rs748035948
MSV3d	rs748035948
GWAS Ctlg	rs748035948

Max Magnitude

0

ClinVar
Risk	rs748035948(T;T)
Alt	rs748035948(T;T)
Reference	Rs748035948(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47545179G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030600.24,