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rs104895219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895219(C;T)
Make rs104895219(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6333823
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895219
ebirs104895219
HLIrs104895219
Exacrs104895219
Varsomers104895219
Maprs104895219
PheGenIrs104895219
hapmaprs104895219
1000 genomesrs104895219
hgdprs104895219
ensemblrs104895219
gopubmedrs104895219
geneviewrs104895219
scholarrs104895219
googlers104895219
pharmgkbrs104895219
gwascentralrs104895219
openSNPrs104895219
23andMers104895219
23andMe allrs104895219
SNP Nexus

SNPshotrs104895219
SNPdbers104895219
MSV3drs104895219
GWAS Ctlgrs104895219
Max Magnitude0
OMIM191190
Desc
Variant0002
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895219(A,T;A,T)
Alt rs104895219(A,T;A,T)
Reference rs104895219(C;C)
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.6442989G>A; NC_000012.11:g.6442989G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013129.25, RCV000083920.1,


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


[PMID 13130484] Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.