rs199474678
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs199474678(C;C) |
Make rs199474678(C;T) |
Make rs199474678(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 36574724 |
Gene | RAG1 |
is a | snp |
is | mentioned by |
dbSNP | rs199474678 |
dbSNP (classic) | rs199474678 |
ClinGen | rs199474678 |
ebi | rs199474678 |
HLI | rs199474678 |
Exac | rs199474678 |
Gnomad | rs199474678 |
Varsome | rs199474678 |
LitVar | rs199474678 |
Map | rs199474678 |
PheGenI | rs199474678 |
Biobank | rs199474678 |
1000 genomes | rs199474678 |
hgdp | rs199474678 |
ensembl | rs199474678 |
geneview | rs199474678 |
scholar | rs199474678 |
rs199474678 | |
pharmgkb | rs199474678 |
gwascentral | rs199474678 |
openSNP | rs199474678 |
23andMe | rs199474678 |
SNPshot | rs199474678 |
SNPdbe | rs199474678 |
MSV3d | rs199474678 |
GWAS Ctlg | rs199474678 |
Max Magnitude | 0 |
Considered to be a RAG1 gene mutation that can be associated with relatively mild clinical symptoms or delayed occurrence of T cell and B cell deficiencies but may predispose to progressive multifocal leukoencephalopathy (PML); recessively inherited.[PMID 28216420]
ClinVar | |
---|---|
Risk | rs199474678(T;T) |
Alt | rs199474678(T;T) |
Reference | rs199474678(C;C) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | RAG1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.36596274C>T |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000059564.1, |