rs387906610

Orientation

plus

Stabilized

plus

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

Make rs387906610(A;A)

Make rs387906610(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46132103

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs387906610
dbSNP (classic)	rs387906610
ClinGen	rs387906610
ebi	rs387906610
HLI	rs387906610
Exac	rs387906610
Gnomad	rs387906610
Varsome	rs387906610
LitVar	rs387906610
Map	rs387906610
PheGenI	rs387906610
Biobank	rs387906610
1000 genomes	rs387906610
hgdp	rs387906610
ensembl	rs387906610
geneview	rs387906610
scholar	rs387906610
google	rs387906610
pharmgkb	rs387906610
gwascentral	rs387906610
openSNP	rs387906610
23andMe	rs387906610
SNPshot	rs387906610
SNPdbe	rs387906610
MSV3d	rs387906610
GWAS Ctlg	rs387906610

Max Magnitude

0

ClinVar
Risk	rs387906610(A;A)
Alt	rs387906610(A;A)
Reference	Rs387906610(G;G)
Significance	Pathogenic
Disease	BETHLEM MYOPATHY 1 Bethlem myopathy 1
Variation	info
Gene	COL6A2
CLNDBN	BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47552017G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022492.28, RCV000401313.1,