rs587776892
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCT;CCT) | 0 | common in clinvar |
Make rs587776892(-;-) |
Make rs587776892(-;CTC) |
Make rs587776892(CTC;CTC) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 63930875 |
Gene | DNAJC5 |
is a | snp |
is | mentioned by |
dbSNP | rs587776892 |
dbSNP (classic) | rs587776892 |
ClinGen | rs587776892 |
ebi | rs587776892 |
HLI | rs587776892 |
Exac | rs587776892 |
Gnomad | rs587776892 |
Varsome | rs587776892 |
LitVar | rs587776892 |
Map | rs587776892 |
PheGenI | rs587776892 |
Biobank | rs587776892 |
1000 genomes | rs587776892 |
hgdp | rs587776892 |
ensembl | rs587776892 |
geneview | rs587776892 |
scholar | rs587776892 |
rs587776892 | |
pharmgkb | rs587776892 |
gwascentral | rs587776892 |
openSNP | rs587776892 |
23andMe | rs587776892 |
SNPshot | rs587776892 |
SNPdbe | rs587776892 |
MSV3d | rs587776892 |
GWAS Ctlg | rs587776892 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776892(-;-) |
Alt | rs587776892(-;-) |
Reference | Rs587776892(CCT;CCT) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 4B autosomal dominant |
Variation | info |
Gene | DNAJC5 |
CLNDBN | Ceroid lipofuscinosis neuronal 4B autosomal dominant |
Reversed | 0 |
HGVS | NC_000020.10:g.62562228_62562230delCTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023878.5, |