rs768999208
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs768999208(C;T) |
Make rs768999208(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 18 |
Position | 23539878 |
Gene | NPC1 |
is a | snp |
is | mentioned by |
dbSNP | rs768999208 |
dbSNP (classic) | rs768999208 |
ClinGen | rs768999208 |
ebi | rs768999208 |
HLI | rs768999208 |
Exac | rs768999208 |
Gnomad | rs768999208 |
Varsome | rs768999208 |
LitVar | rs768999208 |
Map | rs768999208 |
PheGenI | rs768999208 |
Biobank | rs768999208 |
1000 genomes | rs768999208 |
hgdp | rs768999208 |
ensembl | rs768999208 |
geneview | rs768999208 |
scholar | rs768999208 |
rs768999208 | |
pharmgkb | rs768999208 |
gwascentral | rs768999208 |
openSNP | rs768999208 |
23andMe | rs768999208 |
SNPshot | rs768999208 |
SNPdbe | rs768999208 |
MSV3d | rs768999208 |
GWAS Ctlg | rs768999208 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768999208(T;T) |
Alt | rs768999208(T;T) |
Reference | Rs768999208(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | NPC1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.21119842C>T |
CLNSRC | |
CLNACC | RCV000258915.1, |