rs756880678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs756880678(A;A) |
Make rs756880678(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127501009 |
Gene | LRSAM1 |
is a | snp |
is | mentioned by |
dbSNP | rs756880678 |
dbSNP (classic) | rs756880678 |
ClinGen | rs756880678 |
ebi | rs756880678 |
HLI | rs756880678 |
Exac | rs756880678 |
Gnomad | rs756880678 |
Varsome | rs756880678 |
LitVar | rs756880678 |
Map | rs756880678 |
PheGenI | rs756880678 |
Biobank | rs756880678 |
1000 genomes | rs756880678 |
hgdp | rs756880678 |
ensembl | rs756880678 |
geneview | rs756880678 |
scholar | rs756880678 |
rs756880678 | |
pharmgkb | rs756880678 |
gwascentral | rs756880678 |
openSNP | rs756880678 |
23andMe | rs756880678 |
SNPshot | rs756880678 |
SNPdbe | rs756880678 |
MSV3d | rs756880678 |
GWAS Ctlg | rs756880678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756880678(A;A) |
Alt | rs756880678(A;A) |
Reference | Rs756880678(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | LRSAM1 |
CLNDBN | Charcot-Marie-Tooth disease |
Reversed | 0 |
HGVS | NC_000009.11:g.130263288G>A |
CLNSRC | |
CLNACC | RCV000192257.1, |