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rs104895225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104895225(G;G)
Make rs104895225(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6334100
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895225
ebirs104895225
HLIrs104895225
Exacrs104895225
Varsomers104895225
Maprs104895225
PheGenIrs104895225
hapmaprs104895225
1000 genomesrs104895225
hgdprs104895225
ensemblrs104895225
gopubmedrs104895225
geneviewrs104895225
scholarrs104895225
googlers104895225
pharmgkbrs104895225
gwascentralrs104895225
openSNPrs104895225
23andMers104895225
23andMe allrs104895225
SNP Nexus

SNPshotrs104895225
SNPdbers104895225
MSV3drs104895225
GWAS Ctlgrs104895225
Max Magnitude0
OMIM191190
Desc
Variant0009
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895225(G;G)
Alt rs104895225(G;G)
Reference rs104895225(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.6443266A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013136.25,


[PMID 11443543OA-icon.png] The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.