rs4879809
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs4879809(C;C) |
Make rs4879809(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 34635601 |
Gene | SIGMAR1 |
is a | snp |
is | mentioned by |
dbSNP | rs4879809 |
dbSNP (classic) | rs4879809 |
ClinGen | rs4879809 |
ebi | rs4879809 |
HLI | rs4879809 |
Exac | rs4879809 |
Gnomad | rs4879809 |
Varsome | rs4879809 |
LitVar | rs4879809 |
Map | rs4879809 |
PheGenI | rs4879809 |
Biobank | rs4879809 |
1000 genomes | rs4879809 |
hgdp | rs4879809 |
ensembl | rs4879809 |
geneview | rs4879809 |
scholar | rs4879809 |
rs4879809 | |
pharmgkb | rs4879809 |
gwascentral | rs4879809 |
openSNP | rs4879809 |
23andMe | rs4879809 |
SNPshot | rs4879809 |
SNPdbe | rs4879809 |
MSV3d | rs4879809 |
GWAS Ctlg | rs4879809 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 26205306] In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia
ClinVar | |
---|---|
Risk | rs4879809(A;A) rs4879809(C;C) rs4879809(G;G) |
Alt | rs4879809(A;A) rs4879809(C;C) rs4879809(G;G) |
Reference | Rs4879809(T;T) |
Significance | Unknown |
Disease | Amyotrophic lateral sclerosis 16 |
Variation | info |
Gene | SIGMAR1 |
CLNDBN | Amyotrophic lateral sclerosis 16, juvenile |
Reversed | 0 |
HGVS | NC_000009.11:g.34635598T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190342.3, |