rs121912937

Orientation

plus

Stabilized

plus

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

Make rs121912937(C;G)

Make rs121912937(G;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46001981

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs121912937
dbSNP (classic)	rs121912937
ClinGen	rs121912937
ebi	rs121912937
HLI	rs121912937
Exac	rs121912937
Gnomad	rs121912937
Varsome	rs121912937
LitVar	rs121912937
Map	rs121912937
PheGenI	rs121912937
Biobank	rs121912937
1000 genomes	rs121912937
hgdp	rs121912937
ensembl	rs121912937
geneview	rs121912937
scholar	rs121912937
google	rs121912937
pharmgkb	rs121912937
gwascentral	rs121912937
openSNP	rs121912937
23andMe	rs121912937
SNPshot	rs121912937
SNPdbe	rs121912937
MSV3d	rs121912937
GWAS Ctlg	rs121912937

Max Magnitude

0

OMIM	120220
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121912937(G;G) rs121912937(T;T)
Alt	rs121912937(G;G) rs121912937(T;T)
Reference	Rs121912937(C;C)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47421895C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018719.25,