rs879253755
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs879253755(C;C) |
Make rs879253755(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 127502795 |
Gene | LRSAM1 |
is a | snp |
is | mentioned by |
dbSNP | rs879253755 |
dbSNP (classic) | rs879253755 |
ClinGen | rs879253755 |
ebi | rs879253755 |
HLI | rs879253755 |
Exac | rs879253755 |
Gnomad | rs879253755 |
Varsome | rs879253755 |
LitVar | rs879253755 |
Map | rs879253755 |
PheGenI | rs879253755 |
Biobank | rs879253755 |
1000 genomes | rs879253755 |
hgdp | rs879253755 |
ensembl | rs879253755 |
geneview | rs879253755 |
scholar | rs879253755 |
rs879253755 | |
pharmgkb | rs879253755 |
gwascentral | rs879253755 |
openSNP | rs879253755 |
23andMe | rs879253755 |
SNPshot | rs879253755 |
SNPdbe | rs879253755 |
MSV3d | rs879253755 |
GWAS Ctlg | rs879253755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253755(C;C) |
Alt | rs879253755(C;C) |
Reference | Rs879253755(T;T) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2P |
Variation | info |
Gene | LRSAM1 |
CLNDBN | Charcot-Marie-Tooth disease type 2P |
Reversed | 0 |
HGVS | NC_000009.11:g.130265074T>C |
CLNSRC | University Hospital of Geneva |
CLNACC | RCV000234917.1, |