rs121909257
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909257(C;T) |
Make rs121909257(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47442780 |
Gene | RAPSN |
is a | snp |
is | mentioned by |
dbSNP | rs121909257 |
dbSNP (classic) | rs121909257 |
ClinGen | rs121909257 |
ebi | rs121909257 |
HLI | rs121909257 |
Exac | rs121909257 |
Gnomad | rs121909257 |
Varsome | rs121909257 |
LitVar | rs121909257 |
Map | rs121909257 |
PheGenI | rs121909257 |
Biobank | rs121909257 |
1000 genomes | rs121909257 |
hgdp | rs121909257 |
ensembl | rs121909257 |
geneview | rs121909257 |
scholar | rs121909257 |
rs121909257 | |
pharmgkb | rs121909257 |
gwascentral | rs121909257 |
openSNP | rs121909257 |
23andMe | rs121909257 |
SNPshot | rs121909257 |
SNPdbe | rs121909257 |
MSV3d | rs121909257 |
GWAS Ctlg | rs121909257 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909257(G;G) rs121909257(T;T) |
Alt | rs121909257(G;G) rs121909257(T;T) |
Reference | Rs121909257(C;C) |
Significance | Pathogenic |
Disease | Pena-Shokeir syndrome type I |
Variation | info |
Gene | RAPSN |
CLNDBN | Pena-Shokeir syndrome type I |
Reversed | 1 |
HGVS | NC_000011.9:g.47464332G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008525.4, |