rs1057517215
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs1057517215(-;-) |
Make rs1057517215(-;CT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 28488603 |
Gene | CLN3 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517215 |
dbSNP (classic) | rs1057517215 |
ClinGen | rs1057517215 |
ebi | rs1057517215 |
HLI | rs1057517215 |
Exac | rs1057517215 |
Gnomad | rs1057517215 |
Varsome | rs1057517215 |
LitVar | rs1057517215 |
Map | rs1057517215 |
PheGenI | rs1057517215 |
Biobank | rs1057517215 |
1000 genomes | rs1057517215 |
hgdp | rs1057517215 |
ensembl | rs1057517215 |
geneview | rs1057517215 |
scholar | rs1057517215 |
rs1057517215 | |
pharmgkb | rs1057517215 |
gwascentral | rs1057517215 |
openSNP | rs1057517215 |
23andMe | rs1057517215 |
SNPshot | rs1057517215 |
SNPdbe | rs1057517215 |
MSV3d | rs1057517215 |
GWAS Ctlg | rs1057517215 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517215(-;-) |
Alt | rs1057517215(-;-) |
Reference | Rs1057517215(CT;CT) |
Significance | Probable-Pathogenic |
Disease | Juvenile neuronal ceroid lipofuscinosis |
Variation | info |
Gene | NPIPB8 CLN3 |
CLNDBN | Juvenile neuronal ceroid lipofuscinosis |
Reversed | 1 |
HGVS | NC_000016.9:g.28499924_28499925delAG |
CLNSRC | |
CLNACC | RCV000409322.1, |