rs587777697
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATC;ATC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TCA;TCA) | 0 | common in clinvar |
Make rs587777697(-;-) |
Make rs587777697(-;TCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 4576754 |
Gene | SLC1A1, SPATA6L |
is a | snp |
is | mentioned by |
dbSNP | rs587777697 |
dbSNP (classic) | rs587777697 |
ClinGen | rs587777697 |
ebi | rs587777697 |
HLI | rs587777697 |
Exac | rs587777697 |
Gnomad | rs587777697 |
Varsome | rs587777697 |
LitVar | rs587777697 |
Map | rs587777697 |
PheGenI | rs587777697 |
Biobank | rs587777697 |
1000 genomes | rs587777697 |
hgdp | rs587777697 |
ensembl | rs587777697 |
geneview | rs587777697 |
scholar | rs587777697 |
rs587777697 | |
pharmgkb | rs587777697 |
gwascentral | rs587777697 |
openSNP | rs587777697 |
23andMe | rs587777697 |
SNPshot | rs587777697 |
SNPdbe | rs587777697 |
MSV3d | rs587777697 |
GWAS Ctlg | rs587777697 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777697(-;-) Rs587777697(ATC;ATC) |
Alt | rs587777697(-;-) Rs587777697(ATC;ATC) |
Reference | Rs587777697(TCA;TCA) |
Significance | Pathogenic |
Disease | Dicarboxylic aminoaciduria |
Variation | info |
Gene | SLC1A1 SPATA6L |
CLNDBN | Dicarboxylic aminoaciduria |
Reversed | 0 |
HGVS | NC_000009.11:g.4576754_4576756delTCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000143977.3, |