rs1057518005

Orientation

plus

Stabilized

plus

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

Make rs1057518005(C;C)

Make rs1057518005(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

45992022

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs1057518005
dbSNP (classic)	rs1057518005
ClinGen	rs1057518005
ebi	rs1057518005
HLI	rs1057518005
Exac	rs1057518005
Gnomad	rs1057518005
Varsome	rs1057518005
LitVar	rs1057518005
Map	rs1057518005
PheGenI	rs1057518005
Biobank	rs1057518005
1000 genomes	rs1057518005
hgdp	rs1057518005
ensembl	rs1057518005
geneview	rs1057518005
scholar	rs1057518005
google	rs1057518005
pharmgkb	rs1057518005
gwascentral	rs1057518005
openSNP	rs1057518005
23andMe	rs1057518005
SNPshot	rs1057518005
SNPdbe	rs1057518005
MSV3d	rs1057518005
GWAS Ctlg	rs1057518005

Max Magnitude

0

ClinVar
Risk	rs1057518005(C;C)
Alt	rs1057518005(C;C)
Reference	Rs1057518005(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	COL6A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000021.8:g.47411936G>C
CLNSRC
CLNACC	RCV000414276.1,