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rs199474678

From SNPedia

Orientationplus
Stabilizedplus
Make rs199474678(C;C)
Make rs199474678(C;T)
Make rs199474678(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position36574724
GeneRAG1
is asnp
is mentioned by
dbSNPrs199474678
dbSNP (old)rs199474678
ClinGenrs199474678
ebirs199474678
HLIrs199474678
Exacrs199474678
Gnomadrs199474678
Varsomers199474678
Maprs199474678
PheGenIrs199474678
Biobankrs199474678
1000 genomesrs199474678
hgdprs199474678
ensemblrs199474678
gopubmedrs199474678
geneviewrs199474678
scholarrs199474678
googlers199474678
pharmgkbrs199474678
gwascentralrs199474678
openSNPrs199474678
23andMers199474678
23andMe allrs199474678
SNPshotrs199474678
SNPdbers199474678
MSV3drs199474678
GWAS Ctlgrs199474678
Max Magnitude

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,