rs119473031
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119473031(C;T) |
Make rs119473031(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 237493529 |
Gene | MLPH |
is a | snp |
is | mentioned by |
dbSNP | rs119473031 |
dbSNP (classic) | rs119473031 |
ClinGen | rs119473031 |
ebi | rs119473031 |
HLI | rs119473031 |
Exac | rs119473031 |
Gnomad | rs119473031 |
Varsome | rs119473031 |
LitVar | rs119473031 |
Map | rs119473031 |
PheGenI | rs119473031 |
Biobank | rs119473031 |
1000 genomes | rs119473031 |
hgdp | rs119473031 |
ensembl | rs119473031 |
geneview | rs119473031 |
scholar | rs119473031 |
rs119473031 | |
pharmgkb | rs119473031 |
gwascentral | rs119473031 |
openSNP | rs119473031 |
23andMe | rs119473031 |
SNPshot | rs119473031 |
SNPdbe | rs119473031 |
MSV3d | rs119473031 |
GWAS Ctlg | rs119473031 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119473031(T;T) |
Alt | rs119473031(T;T) |
Reference | Rs119473031(C;C) |
Significance | Pathogenic |
Disease | Griscelli syndrome type 3 |
Variation | info |
Gene | MLPH |
CLNDBN | Griscelli syndrome type 3 |
Reversed | 0 |
HGVS | NC_000002.11:g.238402172C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004489.2, |