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rs104895220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895220(G;T)
Make rs104895220(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6333817
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895220
ebirs104895220
HLIrs104895220
Exacrs104895220
Varsomers104895220
Maprs104895220
PheGenIrs104895220
hapmaprs104895220
1000 genomesrs104895220
hgdprs104895220
ensemblrs104895220
gopubmedrs104895220
geneviewrs104895220
scholarrs104895220
googlers104895220
pharmgkbrs104895220
gwascentralrs104895220
openSNPrs104895220
23andMers104895220
23andMe allrs104895220
SNP Nexus

SNPshotrs104895220
SNPdbers104895220
MSV3drs104895220
GWAS Ctlgrs104895220
Max Magnitude0
OMIM191190
Desc
Variant0004
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895220(A,T;A,T)
Alt rs104895220(A,T;A,T)
Reference rs104895220(G;G)
Significance Pathogenic
Disease TNF receptor-associated periodic fever syndrome (TRAPS)
Variation info
Gene TNFRSF1A
CLNDBN TNF receptor-associated periodic fever syndrome (TRAPS)
Reversed 1
HGVS NC_000012.11:g.6442983C>A; NC_000012.11:g.6442983C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013131.23, RCV000083922.1,


[PMID 10199409] Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.


[PMID 16508982] Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.