rs138085358
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138085358(A;A) |
Make rs138085358(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 36686136 |
Gene | SLC1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs138085358 |
dbSNP (classic) | rs138085358 |
ClinGen | rs138085358 |
ebi | rs138085358 |
HLI | rs138085358 |
Exac | rs138085358 |
Gnomad | rs138085358 |
Varsome | rs138085358 |
LitVar | rs138085358 |
Map | rs138085358 |
PheGenI | rs138085358 |
Biobank | rs138085358 |
1000 genomes | rs138085358 |
hgdp | rs138085358 |
ensembl | rs138085358 |
geneview | rs138085358 |
scholar | rs138085358 |
rs138085358 | |
pharmgkb | rs138085358 |
gwascentral | rs138085358 |
openSNP | rs138085358 |
23andMe | rs138085358 |
SNPshot | rs138085358 |
SNPdbe | rs138085358 |
MSV3d | rs138085358 |
GWAS Ctlg | rs138085358 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138085358(A;A) |
Alt | rs138085358(A;A) |
Reference | Rs138085358(G;G) |
Significance | Pathogenic |
Disease | Episodic ataxia |
Variation | info |
Gene | SLC1A3 |
CLNDBN | Episodic ataxia, type 6 |
Reversed | 0 |
HGVS | NC_000005.9:g.36686238G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234998.1, |