rs1057520717

Orientation

plus

Stabilized

plus

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

Make rs1057520717(A;A)

Make rs1057520717(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

46122159

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs1057520717
dbSNP (classic)	rs1057520717
ClinGen	rs1057520717
ebi	rs1057520717
HLI	rs1057520717
Exac	rs1057520717
Gnomad	rs1057520717
Varsome	rs1057520717
LitVar	rs1057520717
Map	rs1057520717
PheGenI	rs1057520717
Biobank	rs1057520717
1000 genomes	rs1057520717
hgdp	rs1057520717
ensembl	rs1057520717
geneview	rs1057520717
scholar	rs1057520717
google	rs1057520717
pharmgkb	rs1057520717
gwascentral	rs1057520717
openSNP	rs1057520717
23andMe	rs1057520717
SNPshot	rs1057520717
SNPdbe	rs1057520717
MSV3d	rs1057520717
GWAS Ctlg	rs1057520717

Max Magnitude

0

ClinVar
Risk	rs1057520717(A;A)
Alt	rs1057520717(A;A)
Reference	Rs1057520717(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL6A2
CLNDBN	not provided
Reversed	0
HGVS	NC_000021.8:g.47542073G>A
CLNSRC
CLNACC	RCV000423788.1,