rs119103266
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119103266(C;T) |
Make rs119103266(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 11998787 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs119103266 |
dbSNP (classic) | rs119103266 |
ClinGen | rs119103266 |
ebi | rs119103266 |
HLI | rs119103266 |
Exac | rs119103266 |
Gnomad | rs119103266 |
Varsome | rs119103266 |
LitVar | rs119103266 |
Map | rs119103266 |
PheGenI | rs119103266 |
Biobank | rs119103266 |
1000 genomes | rs119103266 |
hgdp | rs119103266 |
ensembl | rs119103266 |
geneview | rs119103266 |
scholar | rs119103266 |
rs119103266 | |
pharmgkb | rs119103266 |
gwascentral | rs119103266 |
openSNP | rs119103266 |
23andMe | rs119103266 |
SNPshot | rs119103266 |
SNPdbe | rs119103266 |
MSV3d | rs119103266 |
GWAS Ctlg | rs119103266 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103266(T;T) |
Alt | rs119103266(T;T) |
Reference | Rs119103266(C;C) |
Significance | Pathogenic |
Disease | Hereditary motor and sensory neuropathy with optic atrophy |
Variation | info |
Gene | MFN2 |
CLNDBN | Hereditary motor and sensory neuropathy with optic atrophy |
Reversed | 0 |
HGVS | NC_000001.10:g.12058844C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002368.5, |