rs142709940

Orientation

plus

Stabilized

plus

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

Make rs142709940(C;T)

Make rs142709940(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46124919

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs142709940
dbSNP (classic)	rs142709940
ClinGen	rs142709940
ebi	rs142709940
HLI	rs142709940
Exac	rs142709940
Gnomad	rs142709940
Varsome	rs142709940
LitVar	rs142709940
Map	rs142709940
PheGenI	rs142709940
Biobank	rs142709940
1000 genomes	rs142709940
hgdp	rs142709940
ensembl	rs142709940
geneview	rs142709940
scholar	rs142709940
google	rs142709940
pharmgkb	rs142709940
gwascentral	rs142709940
openSNP	rs142709940
23andMe	rs142709940
SNPshot	rs142709940
SNPdbe	rs142709940
MSV3d	rs142709940
GWAS Ctlg	rs142709940

Max Magnitude

0

ClinVar
Risk	rs142709940(A;A) rs142709940(T;T)
Alt	rs142709940(A;A) rs142709940(T;T)
Reference	Rs142709940(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Myosclerosis Collagen VI-related myopathy
Variation	info
Gene	COL6A2
CLNDBN	not specified Myosclerosis Collagen VI-related myopathy
Reversed	0
HGVS	NC_000021.8:g.47544833C>T
CLNSRC
CLNACC	RCV000079859.5, RCV000276065.1, RCV000370549.1,