rs863225022
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863225022(G;T) |
Make rs863225022(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 76303844 |
Gene | HSPB1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225022 |
dbSNP (classic) | rs863225022 |
ClinGen | rs863225022 |
ebi | rs863225022 |
HLI | rs863225022 |
Exac | rs863225022 |
Gnomad | rs863225022 |
Varsome | rs863225022 |
LitVar | rs863225022 |
Map | rs863225022 |
PheGenI | rs863225022 |
Biobank | rs863225022 |
1000 genomes | rs863225022 |
hgdp | rs863225022 |
ensembl | rs863225022 |
geneview | rs863225022 |
scholar | rs863225022 |
rs863225022 | |
pharmgkb | rs863225022 |
gwascentral | rs863225022 |
openSNP | rs863225022 |
23andMe | rs863225022 |
SNPshot | rs863225022 |
SNPdbe | rs863225022 |
MSV3d | rs863225022 |
GWAS Ctlg | rs863225022 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225022(T;T) |
Alt | rs863225022(T;T) |
Reference | Rs863225022(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2F not provided |
Variation | info |
Gene | HSPB1 |
CLNDBN | Charcot-Marie-Tooth disease type 2F not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.75933161G>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201072.1, RCV000236739.1, |