rs121912940

Orientation

plus

Stabilized

plus

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

Make rs121912940(A;A)

Make rs121912940(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46115881

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs121912940
dbSNP (classic)	rs121912940
ClinGen	rs121912940
ebi	rs121912940
HLI	rs121912940
Exac	rs121912940
Gnomad	rs121912940
Varsome	rs121912940
LitVar	rs121912940
Map	rs121912940
PheGenI	rs121912940
Biobank	rs121912940
1000 genomes	rs121912940
hgdp	rs121912940
ensembl	rs121912940
geneview	rs121912940
scholar	rs121912940
google	rs121912940
pharmgkb	rs121912940
gwascentral	rs121912940
openSNP	rs121912940
23andMe	rs121912940
SNPshot	rs121912940
SNPdbe	rs121912940
MSV3d	rs121912940
GWAS Ctlg	rs121912940

Max Magnitude

0

OMIM	120240
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912940(A;A)
Alt	rs121912940(A;A)
Reference	Rs121912940(G;G)
Significance	Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A2
CLNDBN	Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47535795G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018695.28,