rs587776986
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776986(C;C) |
Make rs587776986(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 50465084 |
Gene | SBF1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776986 |
dbSNP (classic) | rs587776986 |
ClinGen | rs587776986 |
ebi | rs587776986 |
HLI | rs587776986 |
Exac | rs587776986 |
Gnomad | rs587776986 |
Varsome | rs587776986 |
LitVar | rs587776986 |
Map | rs587776986 |
PheGenI | rs587776986 |
Biobank | rs587776986 |
1000 genomes | rs587776986 |
hgdp | rs587776986 |
ensembl | rs587776986 |
geneview | rs587776986 |
scholar | rs587776986 |
rs587776986 | |
pharmgkb | rs587776986 |
gwascentral | rs587776986 |
openSNP | rs587776986 |
23andMe | rs587776986 |
SNPshot | rs587776986 |
SNPdbe | rs587776986 |
MSV3d | rs587776986 |
GWAS Ctlg | rs587776986 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776986(C;C) |
Alt | rs587776986(C;C) |
Reference | Rs587776986(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SBF1 |
CLNDBN | Charcot-Marie-Tooth disease, type 4B3 |
Reversed | 0 |
HGVS | NC_000022.10:g.50903513T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043693.5, |