rs387906348
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906348(A;A) |
Make rs387906348(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 36217541 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs387906348 |
dbSNP (classic) | rs387906348 |
ClinGen | rs387906348 |
ebi | rs387906348 |
HLI | rs387906348 |
Exac | rs387906348 |
Gnomad | rs387906348 |
Varsome | rs387906348 |
LitVar | rs387906348 |
Map | rs387906348 |
PheGenI | rs387906348 |
Biobank | rs387906348 |
1000 genomes | rs387906348 |
hgdp | rs387906348 |
ensembl | rs387906348 |
geneview | rs387906348 |
scholar | rs387906348 |
rs387906348 | |
pharmgkb | rs387906348 |
gwascentral | rs387906348 |
openSNP | rs387906348 |
23andMe | rs387906348 |
SNPshot | rs387906348 |
SNPdbe | rs387906348 |
MSV3d | rs387906348 |
GWAS Ctlg | rs387906348 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906348(A;A) |
Alt | rs387906348(A;A) |
Reference | Rs387906348(G;G) |
Significance | Pathogenic |
Disease | Inclusion body myopathy 2 |
Variation | info |
Gene | |
CLNDBN | Inclusion body myopathy 2 |
Reversed | 1 |
HGVS | NC_000009.11:g.36217538C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006399.1, |