rs28939680
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in complete genomics |
Make rs28939680(C;T) |
Make rs28939680(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 76303841 |
Gene | HSPB1 |
is a | snp |
is | mentioned by |
dbSNP | rs28939680 |
dbSNP (classic) | rs28939680 |
ClinGen | rs28939680 |
ebi | rs28939680 |
HLI | rs28939680 |
Exac | rs28939680 |
Gnomad | rs28939680 |
Varsome | rs28939680 |
LitVar | rs28939680 |
Map | rs28939680 |
PheGenI | rs28939680 |
Biobank | rs28939680 |
1000 genomes | rs28939680 |
hgdp | rs28939680 |
ensembl | rs28939680 |
geneview | rs28939680 |
scholar | rs28939680 |
rs28939680 | |
pharmgkb | rs28939680 |
gwascentral | rs28939680 |
openSNP | rs28939680 |
23andMe | rs28939680 |
SNPshot | rs28939680 |
SNPdbe | rs28939680 |
MSV3d | rs28939680 |
GWAS Ctlg | rs28939680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939680(T;T) |
Alt | rs28939680(T;T) |
Reference | Rs28939680(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2F Distal hereditary motor neuronopathy type 2B |
Variation | info |
Gene | HSPB1 |
CLNDBN | Charcot-Marie-Tooth disease type 2F Distal hereditary motor neuronopathy type 2B |
Reversed | 0 |
HGVS | NC_000007.13:g.75933158C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007904.3, RCV000007905.3, |