rs116608946
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs116608946(A;A) |
Make rs116608946(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 237350158 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs116608946 |
dbSNP (classic) | rs116608946 |
ClinGen | rs116608946 |
ebi | rs116608946 |
HLI | rs116608946 |
Exac | rs116608946 |
Gnomad | rs116608946 |
Varsome | rs116608946 |
LitVar | rs116608946 |
Map | rs116608946 |
PheGenI | rs116608946 |
Biobank | rs116608946 |
1000 genomes | rs116608946 |
hgdp | rs116608946 |
ensembl | rs116608946 |
geneview | rs116608946 |
scholar | rs116608946 |
rs116608946 | |
pharmgkb | rs116608946 |
gwascentral | rs116608946 |
openSNP | rs116608946 |
23andMe | rs116608946 |
SNPshot | rs116608946 |
SNPdbe | rs116608946 |
MSV3d | rs116608946 |
GWAS Ctlg | rs116608946 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116608946(A;A) |
Alt | rs116608946(A;A) |
Reference | Rs116608946(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Collagen VI-related myopathy |
Variation | info |
Gene | COL6A3 |
CLNDBN | not specified Collagen VI-related myopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.238258801G>A |
CLNSRC | |
CLNACC | RCV000149954.3, RCV000369192.1, |