rs121912934

Orientation

plus

Stabilized

plus

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

Make rs121912934(G;T)

Make rs121912934(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45998399

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs121912934
dbSNP (classic)	rs121912934
ClinGen	rs121912934
ebi	rs121912934
HLI	rs121912934
Exac	rs121912934
Gnomad	rs121912934
Varsome	rs121912934
LitVar	rs121912934
Map	rs121912934
PheGenI	rs121912934
Biobank	rs121912934
1000 genomes	rs121912934
hgdp	rs121912934
ensembl	rs121912934
geneview	rs121912934
scholar	rs121912934
google	rs121912934
pharmgkb	rs121912934
gwascentral	rs121912934
openSNP	rs121912934
23andMe	rs121912934
SNPshot	rs121912934
SNPdbe	rs121912934
MSV3d	rs121912934
GWAS Ctlg	rs121912934

Max Magnitude

0

OMIM	120220
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912934(T;T)
Alt	rs121912934(T;T)
Reference	Rs121912934(G;G)
Significance	Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A1
CLNDBN	Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47418313G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018709.26,