rs587777680
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs587777680(-;-) |
Make rs587777680(-;AT) |
Reference | GRCh38 38.1/142 |
Chromosome | 18 |
Position | 7016663 |
Gene | LAMA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777680 |
dbSNP (classic) | rs587777680 |
ClinGen | rs587777680 |
ebi | rs587777680 |
HLI | rs587777680 |
Exac | rs587777680 |
Gnomad | rs587777680 |
Varsome | rs587777680 |
LitVar | rs587777680 |
Map | rs587777680 |
PheGenI | rs587777680 |
Biobank | rs587777680 |
1000 genomes | rs587777680 |
hgdp | rs587777680 |
ensembl | rs587777680 |
geneview | rs587777680 |
scholar | rs587777680 |
rs587777680 | |
pharmgkb | rs587777680 |
gwascentral | rs587777680 |
openSNP | rs587777680 |
23andMe | rs587777680 |
SNPshot | rs587777680 |
SNPdbe | rs587777680 |
MSV3d | rs587777680 |
GWAS Ctlg | rs587777680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777680(-;-) |
Alt | rs587777680(-;-) |
Reference | Rs587777680(AT;AT) |
Significance | Pathogenic |
Disease | Poretti-boltshauser syndrome |
Variation | info |
Gene | LAMA1 |
CLNDBN | Poretti-boltshauser syndrome |
Reversed | 1 |
HGVS | NC_000018.9:g.7016662_7016663delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000133607.4, |