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rs104895218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895218(A;A)
Make rs104895218(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6334099
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895218
ebirs104895218
HLIrs104895218
Exacrs104895218
Varsomers104895218
Maprs104895218
PheGenIrs104895218
hapmaprs104895218
1000 genomesrs104895218
hgdprs104895218
ensemblrs104895218
gopubmedrs104895218
geneviewrs104895218
scholarrs104895218
googlers104895218
pharmgkbrs104895218
gwascentralrs104895218
openSNPrs104895218
23andMers104895218
23andMe allrs104895218
SNP Nexus

SNPshotrs104895218
SNPdbers104895218
MSV3drs104895218
GWAS Ctlgrs104895218
Max Magnitude0
OMIM191190
Desc
Variant0001
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895218(A;A)
Alt rs104895218(A;A)
Reference rs104895218(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.6443265C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013128.25,


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