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rs104895217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104895217(C;C)
Make rs104895217(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6334109
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895217
ebirs104895217
HLIrs104895217
Exacrs104895217
Varsomers104895217
Maprs104895217
PheGenIrs104895217
hapmaprs104895217
1000 genomesrs104895217
hgdprs104895217
ensemblrs104895217
gopubmedrs104895217
geneviewrs104895217
scholarrs104895217
googlers104895217
pharmgkbrs104895217
gwascentralrs104895217
openSNPrs104895217
23andMers104895217
23andMe allrs104895217
SNP Nexus

SNPshotrs104895217
SNPdbers104895217
MSV3drs104895217
GWAS Ctlgrs104895217
Max Magnitude0
OMIM191190
Desc
Variant0003
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895217(C;C)
Alt rs104895217(C;C)
Reference rs104895217(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.6443275A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013130.24,


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