rs118203978
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118203978(A;G) |
Make rs118203978(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 127943829 |
Gene | MFSD8 |
is a | snp |
is | mentioned by |
dbSNP | rs118203978 |
dbSNP (classic) | rs118203978 |
ClinGen | rs118203978 |
ebi | rs118203978 |
HLI | rs118203978 |
Exac | rs118203978 |
Gnomad | rs118203978 |
Varsome | rs118203978 |
LitVar | rs118203978 |
Map | rs118203978 |
PheGenI | rs118203978 |
Biobank | rs118203978 |
1000 genomes | rs118203978 |
hgdp | rs118203978 |
ensembl | rs118203978 |
geneview | rs118203978 |
scholar | rs118203978 |
rs118203978 | |
pharmgkb | rs118203978 |
gwascentral | rs118203978 |
openSNP | rs118203978 |
23andMe | rs118203978 |
SNPshot | rs118203978 |
SNPdbe | rs118203978 |
MSV3d | rs118203978 |
GWAS Ctlg | rs118203978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203978(C;C) rs118203978(G;G) |
Alt | rs118203978(C;C) rs118203978(G;G) |
Reference | Rs118203978(A;A) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 7 not provided |
Variation | info |
Gene | MFSD8 |
CLNDBN | Ceroid lipofuscinosis neuronal 7 not provided |
Reversed | 1 |
HGVS | NC_000004.11:g.128864984T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001059.3, RCV000188166.2, |