rs119103264
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs119103264(A;G) |
Make rs119103264(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 12001411 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs119103264 |
dbSNP (classic) | rs119103264 |
ClinGen | rs119103264 |
ebi | rs119103264 |
HLI | rs119103264 |
Exac | rs119103264 |
Gnomad | rs119103264 |
Varsome | rs119103264 |
LitVar | rs119103264 |
Map | rs119103264 |
PheGenI | rs119103264 |
Biobank | rs119103264 |
1000 genomes | rs119103264 |
hgdp | rs119103264 |
ensembl | rs119103264 |
geneview | rs119103264 |
scholar | rs119103264 |
rs119103264 | |
pharmgkb | rs119103264 |
gwascentral | rs119103264 |
openSNP | rs119103264 |
23andMe | rs119103264 |
SNPshot | rs119103264 |
SNPdbe | rs119103264 |
MSV3d | rs119103264 |
GWAS Ctlg | rs119103264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103264(G;G) |
Alt | rs119103264(G;G) |
Reference | Rs119103264(A;A) |
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.12061468A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002366.5, |