rs28940897
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 |
Make rs28940897(A;C) |
Make rs28940897(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 23539823 |
Gene | NPC1 |
is a | snp |
is | mentioned by |
dbSNP | rs28940897 |
dbSNP (classic) | rs28940897 |
ClinGen | rs28940897 |
ebi | rs28940897 |
HLI | rs28940897 |
Exac | rs28940897 |
Gnomad | rs28940897 |
Varsome | rs28940897 |
LitVar | rs28940897 |
Map | rs28940897 |
PheGenI | rs28940897 |
Biobank | rs28940897 |
1000 genomes | rs28940897 |
hgdp | rs28940897 |
ensembl | rs28940897 |
geneview | rs28940897 |
scholar | rs28940897 |
rs28940897 | |
pharmgkb | rs28940897 |
gwascentral | rs28940897 |
openSNP | rs28940897 |
23andMe | rs28940897 |
SNPshot | rs28940897 |
SNPdbe | rs28940897 |
MSV3d | rs28940897 |
GWAS Ctlg | rs28940897 |
Max Magnitude | 0 |
OMIM | 607623 |
Desc | Niemann-Pick disease, TYPE C1 |
Variant | 0001 |
Related | also |
ClinVar | |
---|---|
Risk | rs28940897(C;C) |
Alt | rs28940897(C;C) |
Reference | Rs28940897(A;A) |
Significance | Pathogenic |
Disease | Niemann-Pick disease type C1 |
Variation | info |
Gene | NPC1 |
CLNDBN | Niemann-Pick disease type C1 |
Reversed | 1 |
HGVS | NC_000018.9:g.21119787T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003091.2, |