rs587777186
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777186(A;G) |
Make rs587777186(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 18 |
Position | 62146023 |
Gene | PIGN |
is a | snp |
is | mentioned by |
dbSNP | rs587777186 |
dbSNP (classic) | rs587777186 |
ClinGen | rs587777186 |
ebi | rs587777186 |
HLI | rs587777186 |
Exac | rs587777186 |
Gnomad | rs587777186 |
Varsome | rs587777186 |
LitVar | rs587777186 |
Map | rs587777186 |
PheGenI | rs587777186 |
Biobank | rs587777186 |
1000 genomes | rs587777186 |
hgdp | rs587777186 |
ensembl | rs587777186 |
geneview | rs587777186 |
scholar | rs587777186 |
rs587777186 | |
pharmgkb | rs587777186 |
gwascentral | rs587777186 |
openSNP | rs587777186 |
23andMe | rs587777186 |
SNPshot | rs587777186 |
SNPdbe | rs587777186 |
MSV3d | rs587777186 |
GWAS Ctlg | rs587777186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777186(A;A) rs587777186(G;G) |
Alt | Rs587777186(A;A) rs587777186(G;G) |
Reference | Rs587777186(T;T) |
Significance | Pathogenic |
Disease | Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
Variation | info |
Gene | PIGN |
CLNDBN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
Reversed | 1 |
HGVS | NC_000018.9:g.59813256A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087305.6, |