rs797044728
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044728(-;AGTGCCTAACG) |
Make rs797044728(AGTGCCTAACG;AGTGCCTAACG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 129098310 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044728 |
dbSNP (classic) | rs797044728 |
ClinGen | rs797044728 |
ebi | rs797044728 |
HLI | rs797044728 |
Exac | rs797044728 |
Gnomad | rs797044728 |
Varsome | rs797044728 |
LitVar | rs797044728 |
Map | rs797044728 |
PheGenI | rs797044728 |
Biobank | rs797044728 |
1000 genomes | rs797044728 |
hgdp | rs797044728 |
ensembl | rs797044728 |
geneview | rs797044728 |
scholar | rs797044728 |
rs797044728 | |
pharmgkb | rs797044728 |
gwascentral | rs797044728 |
openSNP | rs797044728 |
23andMe | rs797044728 |
SNPshot | rs797044728 |
SNPdbe | rs797044728 |
MSV3d | rs797044728 |
GWAS Ctlg | rs797044728 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044728(GAGTGCCTAAC;GAGTGCCTAAC) |
Alt | rs797044728(GAGTGCCTAAC;GAGTGCCTAAC) |
Reference | Rs797044728(-;-) |
Significance | Pathogenic |
Disease | Merosin deficient congenital muscular dystrophy |
Variation | info |
Gene | LAMA2 |
CLNDBN | Merosin deficient congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000006.11:g.129419445_129419455dupAGTGCCTAACG |
CLNSRC | |
CLNACC | RCV000178101.1, |