rs121909113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909113(A;A) |
Make rs121909113(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 76303007 |
Gene | HSPB1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909113 |
dbSNP (classic) | rs121909113 |
ClinGen | rs121909113 |
ebi | rs121909113 |
HLI | rs121909113 |
Exac | rs121909113 |
Gnomad | rs121909113 |
Varsome | rs121909113 |
LitVar | rs121909113 |
Map | rs121909113 |
PheGenI | rs121909113 |
Biobank | rs121909113 |
1000 genomes | rs121909113 |
hgdp | rs121909113 |
ensembl | rs121909113 |
geneview | rs121909113 |
scholar | rs121909113 |
rs121909113 | |
pharmgkb | rs121909113 |
gwascentral | rs121909113 |
openSNP | rs121909113 |
23andMe | rs121909113 |
SNPshot | rs121909113 |
SNPdbe | rs121909113 |
MSV3d | rs121909113 |
GWAS Ctlg | rs121909113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909113(A;A) |
Alt | rs121909113(A;A) |
Reference | Rs121909113(C;C) |
Significance | Probable-Pathogenic |
Disease | Distal hereditary motor neuronopathy type 2B |
Variation | info |
Gene | HSPB1 |
CLNDBN | Distal hereditary motor neuronopathy type 2B |
Reversed | 0 |
HGVS | NC_000007.13:g.75932324C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007913.1, |