rs121912942

Orientation

plus

Stabilized

plus

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

Make rs121912942(C;T)

Make rs121912942(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46126535

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs121912942
dbSNP (classic)	rs121912942
ClinGen	rs121912942
ebi	rs121912942
HLI	rs121912942
Exac	rs121912942
Gnomad	rs121912942
Varsome	rs121912942
LitVar	rs121912942
Map	rs121912942
PheGenI	rs121912942
Biobank	rs121912942
1000 genomes	rs121912942
hgdp	rs121912942
ensembl	rs121912942
geneview	rs121912942
scholar	rs121912942
google	rs121912942
pharmgkb	rs121912942
gwascentral	rs121912942
openSNP	rs121912942
23andMe	rs121912942
SNPshot	rs121912942
SNPdbe	rs121912942
MSV3d	rs121912942
GWAS Ctlg	rs121912942

Max Magnitude

0

OMIM	120240
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121912942(T;T)
Alt	rs121912942(T;T)
Reference	Rs121912942(C;C)
Significance	Pathogenic
Disease	Myosclerosis BETHLEM MYOPATHY 1 not provided
Variation	info
Gene	COL6A2
CLNDBN	Myosclerosis, autosomal recessive BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE not provided
Reversed	0
HGVS	NC_000021.8:g.47546449C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018705.26, RCV000186497.2, RCV000480797.1,