rs2839110

Orientation

plus

Stabilized

plus

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

Make rs2839110(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46119046

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs2839110
dbSNP (classic)	rs2839110
ClinGen	rs2839110
ebi	rs2839110
HLI	rs2839110
Exac	rs2839110
Gnomad	rs2839110
Varsome	rs2839110
LitVar	rs2839110
Map	rs2839110
PheGenI	rs2839110
Biobank	rs2839110
1000 genomes	rs2839110
hgdp	rs2839110
ensembl	rs2839110
geneview	rs2839110
scholar	rs2839110
google	rs2839110
pharmgkb	rs2839110
gwascentral	rs2839110
openSNP	rs2839110
23andMe	rs2839110
SNPshot	rs2839110
SNPdbe	rs2839110
MSV3d	rs2839110
GWAS Ctlg	rs2839110

GMAF

0.2094

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	Rs2839110(A;A) rs2839110(T;T)
Alt	Rs2839110(A;A) rs2839110(T;T)
Reference	Rs2839110(G;G)
Significance	Non-pathogenic
Disease	not specified Collagen VI-related myopathy Myosclerosis
Variation	info
Gene	COL6A2
CLNDBN	not specified Collagen VI-related myopathy Myosclerosis
Reversed	0
HGVS	NC_000021.8:g.47538960G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000079842.7, RCV000323060.1, RCV000382221.1,