rs747900252

Orientation

plus

Stabilized

plus

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

Make rs747900252(A;A)

Make rs747900252(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

46125776

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs747900252
dbSNP (classic)	rs747900252
ClinGen	rs747900252
ebi	rs747900252
HLI	rs747900252
Exac	rs747900252
Gnomad	rs747900252
Varsome	rs747900252
LitVar	rs747900252
Map	rs747900252
PheGenI	rs747900252
Biobank	rs747900252
1000 genomes	rs747900252
hgdp	rs747900252
ensembl	rs747900252
geneview	rs747900252
scholar	rs747900252
google	rs747900252
pharmgkb	rs747900252
gwascentral	rs747900252
openSNP	rs747900252
23andMe	rs747900252
SNPshot	rs747900252
SNPdbe	rs747900252
MSV3d	rs747900252
GWAS Ctlg	rs747900252

Max Magnitude

0

ClinVar
Risk	rs747900252(A;A)
Alt	rs747900252(A;A)
Reference	Rs747900252(G;G)
Significance	Pathogenic
Disease	not provided Myosclerosis Collagen VI-related myopathy not specified
Variation	info
Gene	COL6A2
CLNDBN	not provided Myosclerosis Collagen VI-related myopathy not specified
Reversed	0
HGVS	NC_000021.8:g.47545690G>A
CLNSRC	Illumina
CLNACC	RCV000255313.1, RCV000313321.1, RCV000354105.1, RCV000392962.1,