rs104894490
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894490(C;C) |
Make rs104894490(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 22812252 |
Gene | NIPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894490 |
dbSNP (classic) | rs104894490 |
ClinGen | rs104894490 |
ebi | rs104894490 |
HLI | rs104894490 |
Exac | rs104894490 |
Gnomad | rs104894490 |
Varsome | rs104894490 |
LitVar | rs104894490 |
Map | rs104894490 |
PheGenI | rs104894490 |
Biobank | rs104894490 |
1000 genomes | rs104894490 |
hgdp | rs104894490 |
ensembl | rs104894490 |
geneview | rs104894490 |
scholar | rs104894490 |
rs104894490 | |
pharmgkb | rs104894490 |
gwascentral | rs104894490 |
openSNP | rs104894490 |
23andMe | rs104894490 |
SNPshot | rs104894490 |
SNPdbe | rs104894490 |
MSV3d | rs104894490 |
GWAS Ctlg | rs104894490 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894490(A;A) rs104894490(C;C) |
Alt | rs104894490(A;A) rs104894490(C;C) |
Reference | Rs104894490(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 6 |
Variation | info |
Gene | NIPA1 |
CLNDBN | Spastic paraplegia 6 |
Reversed | 1 |
HGVS | NC_000015.9:g.23060816C>G; NC_000015.9:g.23060816C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002629.2, RCV000002631.3, |