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rs104895222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895222(A;A)
Make rs104895222(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6333489
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895222
ebirs104895222
HLIrs104895222
Exacrs104895222
Varsomers104895222
Maprs104895222
PheGenIrs104895222
hapmaprs104895222
1000 genomesrs104895222
hgdprs104895222
ensemblrs104895222
gopubmedrs104895222
geneviewrs104895222
scholarrs104895222
googlers104895222
pharmgkbrs104895222
gwascentralrs104895222
openSNPrs104895222
23andMers104895222
23andMe allrs104895222
SNP Nexus

SNPshotrs104895222
SNPdbers104895222
MSV3drs104895222
GWAS Ctlgrs104895222
Max Magnitude0
OMIM191190
Desc
Variant0006
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895222(A;A)
Alt rs104895222(A;A)
Reference rs104895222(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.6442655C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013133.17,


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