rs387906587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906587(A;A) |
Make rs387906587(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 128835550 |
Gene | FLNC |
is a | snp |
is | mentioned by |
dbSNP | rs387906587 |
dbSNP (classic) | rs387906587 |
ClinGen | rs387906587 |
ebi | rs387906587 |
HLI | rs387906587 |
Exac | rs387906587 |
Gnomad | rs387906587 |
Varsome | rs387906587 |
LitVar | rs387906587 |
Map | rs387906587 |
PheGenI | rs387906587 |
Biobank | rs387906587 |
1000 genomes | rs387906587 |
hgdp | rs387906587 |
ensembl | rs387906587 |
geneview | rs387906587 |
scholar | rs387906587 |
rs387906587 | |
pharmgkb | rs387906587 |
gwascentral | rs387906587 |
openSNP | rs387906587 |
23andMe | rs387906587 |
SNPshot | rs387906587 |
SNPdbe | rs387906587 |
MSV3d | rs387906587 |
GWAS Ctlg | rs387906587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906587(A;A) |
Alt | rs387906587(A;A) |
Reference | Rs387906587(G;G) |
Significance | Pathogenic |
Disease | Myopathy not provided |
Variation | info |
Gene | FLNC |
CLNDBN | Myopathy, distal, 4 not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.128475604G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022429.28, RCV000442836.1, |