rs587777714
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777714(A;A) |
Make rs587777714(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 109743137 |
Gene | FIG4 |
is a | snp |
is | mentioned by |
dbSNP | rs587777714 |
dbSNP (classic) | rs587777714 |
ClinGen | rs587777714 |
ebi | rs587777714 |
HLI | rs587777714 |
Exac | rs587777714 |
Gnomad | rs587777714 |
Varsome | rs587777714 |
LitVar | rs587777714 |
Map | rs587777714 |
PheGenI | rs587777714 |
Biobank | rs587777714 |
1000 genomes | rs587777714 |
hgdp | rs587777714 |
ensembl | rs587777714 |
geneview | rs587777714 |
scholar | rs587777714 |
rs587777714 | |
pharmgkb | rs587777714 |
gwascentral | rs587777714 |
openSNP | rs587777714 |
23andMe | rs587777714 |
SNPshot | rs587777714 |
SNPdbe | rs587777714 |
MSV3d | rs587777714 |
GWAS Ctlg | rs587777714 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777714(A;A) |
Alt | rs587777714(A;A) |
Reference | Rs587777714(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | FIG4 |
CLNDBN | Charcot-Marie-Tooth disease, type 4J |
Reversed | 0 |
HGVS | NC_000006.11:g.110064340G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144072.4, |