rs150418024
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150418024(C;G) |
Make rs150418024(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 127921956 |
Gene | MFSD8 |
is a | snp |
is | mentioned by |
dbSNP | rs150418024 |
dbSNP (classic) | rs150418024 |
ClinGen | rs150418024 |
ebi | rs150418024 |
HLI | rs150418024 |
Exac | rs150418024 |
Gnomad | rs150418024 |
Varsome | rs150418024 |
LitVar | rs150418024 |
Map | rs150418024 |
PheGenI | rs150418024 |
Biobank | rs150418024 |
1000 genomes | rs150418024 |
hgdp | rs150418024 |
ensembl | rs150418024 |
geneview | rs150418024 |
scholar | rs150418024 |
rs150418024 | |
pharmgkb | rs150418024 |
gwascentral | rs150418024 |
openSNP | rs150418024 |
23andMe | rs150418024 |
SNPshot | rs150418024 |
SNPdbe | rs150418024 |
MSV3d | rs150418024 |
GWAS Ctlg | rs150418024 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150418024(G;G) rs150418024(T;T) |
Alt | rs150418024(G;G) rs150418024(T;T) |
Reference | Rs150418024(C;C) |
Significance | Pathogenic |
Disease | Macular dystrophy with central cone involvement not specified |
Variation | info |
Gene | MFSD8 |
CLNDBN | Macular dystrophy with central cone involvement not specified |
Reversed | 0 |
HGVS | NC_000004.11:g.128843111C>G; NC_000004.11:g.128843111C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149771.3, RCV000188179.3, RCV000334238.1, |