rs376880198

Orientation

plus

Stabilized

plus

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

Make rs376880198(C;T)

Make rs376880198(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46132019

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs376880198
dbSNP (classic)	rs376880198
ClinGen	rs376880198
ebi	rs376880198
HLI	rs376880198
Exac	rs376880198
Gnomad	rs376880198
Varsome	rs376880198
LitVar	rs376880198
Map	rs376880198
PheGenI	rs376880198
Biobank	rs376880198
1000 genomes	rs376880198
hgdp	rs376880198
ensembl	rs376880198
geneview	rs376880198
scholar	rs376880198
google	rs376880198
pharmgkb	rs376880198
gwascentral	rs376880198
openSNP	rs376880198
23andMe	rs376880198
SNPshot	rs376880198
SNPdbe	rs376880198
MSV3d	rs376880198
GWAS Ctlg	rs376880198

Max Magnitude

0

ClinVar
Risk	rs376880198(T;T)
Alt	rs376880198(T;T)
Reference	Rs376880198(C;C)
Significance	Pathogenic
Disease	BETHLEM MYOPATHY 1
Variation	info
Gene	COL6A2
CLNDBN	BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
Reversed	0
HGVS	NC_000021.8:g.47551933C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022490.29,