rs387906335
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387906335(-;C) |
Make rs387906335(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 43711796 |
Gene | ABHD5 |
is a | snp |
is | mentioned by |
dbSNP | rs387906335 |
dbSNP (classic) | rs387906335 |
ClinGen | rs387906335 |
ebi | rs387906335 |
HLI | rs387906335 |
Exac | rs387906335 |
Gnomad | rs387906335 |
Varsome | rs387906335 |
LitVar | rs387906335 |
Map | rs387906335 |
PheGenI | rs387906335 |
Biobank | rs387906335 |
1000 genomes | rs387906335 |
hgdp | rs387906335 |
ensembl | rs387906335 |
geneview | rs387906335 |
scholar | rs387906335 |
rs387906335 | |
pharmgkb | rs387906335 |
gwascentral | rs387906335 |
openSNP | rs387906335 |
23andMe | rs387906335 |
SNPshot | rs387906335 |
SNPdbe | rs387906335 |
MSV3d | rs387906335 |
GWAS Ctlg | rs387906335 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906335(C;C) |
Alt | rs387906335(C;C) |
Reference | Rs387906335(-;-) |
Significance | Pathogenic |
Disease | Triglyceride storage disease with ichthyosis |
Variation | info |
Gene | ABHD5 |
CLNDBN | Triglyceride storage disease with ichthyosis |
Reversed | 0 |
HGVS | NC_000003.11:g.43753288dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005681.2, |