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rs104895223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895223(C;C)
Make rs104895223(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6334108
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895223
ebirs104895223
HLIrs104895223
Exacrs104895223
Varsomers104895223
Maprs104895223
PheGenIrs104895223
hapmaprs104895223
1000 genomesrs104895223
hgdprs104895223
ensemblrs104895223
gopubmedrs104895223
geneviewrs104895223
scholarrs104895223
googlers104895223
pharmgkbrs104895223
gwascentralrs104895223
openSNPrs104895223
23andMers104895223
23andMe allrs104895223
SNP Nexus

SNPshotrs104895223
SNPdbers104895223
MSV3drs104895223
GWAS Ctlgrs104895223
Max Magnitude0
OMIM191190
Desc
Variant0008
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895223(A,C,T;A,C,T)
Alt rs104895223(A,C,T;A,C,T)
Reference rs104895223(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.6443274C>A; NC_000012.11:g.6443274C>G; NC_000012.11:g.6443274C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083906.1, RCV000013135.24, RCV000083905.1,


[PMID 10902757] A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.