rs587778809
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587778809(A;A) |
Make rs587778809(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 127938781 |
Gene | MFSD8 |
is a | snp |
is | mentioned by |
dbSNP | rs587778809 |
dbSNP (classic) | rs587778809 |
ClinGen | rs587778809 |
ebi | rs587778809 |
HLI | rs587778809 |
Exac | rs587778809 |
Gnomad | rs587778809 |
Varsome | rs587778809 |
LitVar | rs587778809 |
Map | rs587778809 |
PheGenI | rs587778809 |
Biobank | rs587778809 |
1000 genomes | rs587778809 |
hgdp | rs587778809 |
ensembl | rs587778809 |
geneview | rs587778809 |
scholar | rs587778809 |
rs587778809 | |
pharmgkb | rs587778809 |
gwascentral | rs587778809 |
openSNP | rs587778809 |
23andMe | rs587778809 |
SNPshot | rs587778809 |
SNPdbe | rs587778809 |
MSV3d | rs587778809 |
GWAS Ctlg | rs587778809 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587778809(A;A) |
Alt | rs587778809(A;A) |
Reference | Rs587778809(T;T) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 7 not provided Neuronal Ceroid-Lipofuscinosis |
Variation | info |
Gene | MFSD8 |
CLNDBN | Ceroid lipofuscinosis neuronal 7 not provided Neuronal Ceroid-Lipofuscinosis, Recessive |
Reversed | 1 |
HGVS | NC_000004.11:g.128859936A>T |
CLNSRC | |
CLNACC | RCV000056142.1, RCV000188171.1, RCV000269722.1, |