rs387906609

Orientation

plus

Stabilized

plus

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

Make rs387906609(C;T)

Make rs387906609(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46117916

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs387906609
dbSNP (classic)	rs387906609
ClinGen	rs387906609
ebi	rs387906609
HLI	rs387906609
Exac	rs387906609
Gnomad	rs387906609
Varsome	rs387906609
LitVar	rs387906609
Map	rs387906609
PheGenI	rs387906609
Biobank	rs387906609
1000 genomes	rs387906609
hgdp	rs387906609
ensembl	rs387906609
geneview	rs387906609
scholar	rs387906609
google	rs387906609
pharmgkb	rs387906609
gwascentral	rs387906609
openSNP	rs387906609
23andMe	rs387906609
SNPshot	rs387906609
SNPdbe	rs387906609
MSV3d	rs387906609
GWAS Ctlg	rs387906609

Max Magnitude

0

ClinVar
Risk	rs387906609(T;T)
Alt	rs387906609(T;T)
Reference	Rs387906609(C;C)
Significance	Pathogenic
Disease	BETHLEM MYOPATHY 1 not provided Bethlem myopathy 1
Variation	info
Gene	COL6A2
CLNDBN	BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE not provided Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47537830C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022491.29, RCV000254747.1, RCV000279821.1,