rs376355678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs376355678(C;G) |
Make rs376355678(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 18 |
Position | 62106985 |
Gene | PIGN |
is a | snp |
is | mentioned by |
dbSNP | rs376355678 |
dbSNP (classic) | rs376355678 |
ClinGen | rs376355678 |
ebi | rs376355678 |
HLI | rs376355678 |
Exac | rs376355678 |
Gnomad | rs376355678 |
Varsome | rs376355678 |
LitVar | rs376355678 |
Map | rs376355678 |
PheGenI | rs376355678 |
Biobank | rs376355678 |
1000 genomes | rs376355678 |
hgdp | rs376355678 |
ensembl | rs376355678 |
geneview | rs376355678 |
scholar | rs376355678 |
rs376355678 | |
pharmgkb | rs376355678 |
gwascentral | rs376355678 |
openSNP | rs376355678 |
23andMe | rs376355678 |
SNPshot | rs376355678 |
SNPdbe | rs376355678 |
MSV3d | rs376355678 |
GWAS Ctlg | rs376355678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376355678(G;G) rs376355678(T;T) |
Alt | rs376355678(G;G) rs376355678(T;T) |
Reference | Rs376355678(C;C) |
Significance | Pathogenic |
Disease | Multiple congenital anomalies-hypotonia-seizures syndrome 1 not provided |
Variation | info |
Gene | PIGN |
CLNDBN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.59774218C>G; NC_000018.9:g.59774218C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000241768.1, RCV000488252.1, |