rs202102042
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202102042(C;T) |
Make rs202102042(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 11847114 |
Gene | NPPA, NPPA-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs202102042 |
dbSNP (classic) | rs202102042 |
ClinGen | rs202102042 |
ebi | rs202102042 |
HLI | rs202102042 |
Exac | rs202102042 |
Gnomad | rs202102042 |
Varsome | rs202102042 |
LitVar | rs202102042 |
Map | rs202102042 |
PheGenI | rs202102042 |
Biobank | rs202102042 |
1000 genomes | rs202102042 |
hgdp | rs202102042 |
ensembl | rs202102042 |
geneview | rs202102042 |
scholar | rs202102042 |
rs202102042 | |
pharmgkb | rs202102042 |
gwascentral | rs202102042 |
openSNP | rs202102042 |
23andMe | rs202102042 |
SNPshot | rs202102042 |
SNPdbe | rs202102042 |
MSV3d | rs202102042 |
GWAS Ctlg | rs202102042 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202102042(T;T) |
Alt | rs202102042(T;T) |
Reference | Rs202102042(C;C) |
Significance | Pathogenic |
Disease | Atrial standstill 2 |
Variation | info |
Gene | NPPA NPPA-AS1 |
CLNDBN | Atrial standstill 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.11907171C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114740.2, |