rs139552940

Orientation

plus

Stabilized

plus

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

Make rs139552940(A;A)

Make rs139552940(A;G)

Reference

GRCh38 38.1/142

Chromosome

21

Position

46131981

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs139552940
dbSNP (classic)	rs139552940
ClinGen	rs139552940
ebi	rs139552940
HLI	rs139552940
Exac	rs139552940
Gnomad	rs139552940
Varsome	rs139552940
LitVar	rs139552940
Map	rs139552940
PheGenI	rs139552940
Biobank	rs139552940
1000 genomes	rs139552940
hgdp	rs139552940
ensembl	rs139552940
geneview	rs139552940
scholar	rs139552940
google	rs139552940
pharmgkb	rs139552940
gwascentral	rs139552940
openSNP	rs139552940
23andMe	rs139552940
SNPshot	rs139552940
SNPdbe	rs139552940
MSV3d	rs139552940
GWAS Ctlg	rs139552940

Max Magnitude

0

ClinVar
Risk	rs139552940(A;A)
Alt	rs139552940(A;A)
Reference	Rs139552940(G;G)
Significance	Pathogenic
Disease	BETHLEM MYOPATHY 1 Myopathy not specified
Variation	info
Gene	COL6A2
CLNDBN	BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE Myopathy not specified
Reversed	0
HGVS	NC_000021.8:g.47551895G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022490.29, RCV000193161.1, RCV000387708.1,