rs770272088
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs770272088(G;T) |
Make rs770272088(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 76302962 |
Gene | HSPB1 |
is a | snp |
is | mentioned by |
dbSNP | rs770272088 |
dbSNP (classic) | rs770272088 |
ClinGen | rs770272088 |
ebi | rs770272088 |
HLI | rs770272088 |
Exac | rs770272088 |
Gnomad | rs770272088 |
Varsome | rs770272088 |
LitVar | rs770272088 |
Map | rs770272088 |
PheGenI | rs770272088 |
Biobank | rs770272088 |
1000 genomes | rs770272088 |
hgdp | rs770272088 |
ensembl | rs770272088 |
geneview | rs770272088 |
scholar | rs770272088 |
rs770272088 | |
pharmgkb | rs770272088 |
gwascentral | rs770272088 |
openSNP | rs770272088 |
23andMe | rs770272088 |
SNPshot | rs770272088 |
SNPdbe | rs770272088 |
MSV3d | rs770272088 |
GWAS Ctlg | rs770272088 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770272088(C;C) rs770272088(T;T) |
Alt | rs770272088(C;C) rs770272088(T;T) |
Reference | Rs770272088(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2F |
Variation | info |
Gene | HSPB1 |
CLNDBN | Charcot-Marie-Tooth disease type 2F |
Reversed | 0 |
HGVS | NC_000007.13:g.75932279G>C |
CLNSRC | |
CLNACC | RCV000204495.1, |