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rs104895221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104895221(C;C)
Make rs104895221(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6333490
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895221
ebirs104895221
HLIrs104895221
Exacrs104895221
Varsomers104895221
Maprs104895221
PheGenIrs104895221
hapmaprs104895221
1000 genomesrs104895221
hgdprs104895221
ensemblrs104895221
gopubmedrs104895221
geneviewrs104895221
scholarrs104895221
googlers104895221
pharmgkbrs104895221
gwascentralrs104895221
openSNPrs104895221
23andMers104895221
23andMe allrs104895221
SNP Nexus

SNPshotrs104895221
SNPdbers104895221
MSV3drs104895221
GWAS Ctlgrs104895221
Max Magnitude0
OMIM191190
Desc
Variant0005
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895221(C;C)
Alt rs104895221(C;C)
Reference rs104895221(T;T)
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.6442656A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013132.17,


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