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rs104895228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104895228(C;C)
Make rs104895228(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6333764
GeneTNFRSF1A
is asnp
is mentioned by
dbSNPrs104895228
ebirs104895228
HLIrs104895228
Exacrs104895228
Varsomers104895228
Maprs104895228
PheGenIrs104895228
hapmaprs104895228
1000 genomesrs104895228
hgdprs104895228
ensemblrs104895228
gopubmedrs104895228
geneviewrs104895228
scholarrs104895228
googlers104895228
pharmgkbrs104895228
gwascentralrs104895228
openSNPrs104895228
23andMers104895228
23andMe allrs104895228
SNP Nexus

SNPshotrs104895228
SNPdbers104895228
MSV3drs104895228
GWAS Ctlgrs104895228
Max Magnitude0
OMIM191190
Desc
Variant0011
Relatedalso
OMIM142680
Desc
Variant
Relatedalso
ClinVar
Risk rs104895228(A,C,G;A,C,G)
Alt rs104895228(A,C,G;A,C,G)
Reference rs104895228(T;T)
Significance Pathogenic
Disease TNF receptor-associated periodic fever syndrome (TRAPS) not provided
Variation info
Gene TNFRSF1A
CLNDBN TNF receptor-associated periodic fever syndrome (TRAPS) not provided
Reversed 1
HGVS NC_000012.11:g.6442930A>C; NC_000012.11:g.6442930A>G; NC_000012.11:g.6442930A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083940.1, RCV000083939.1, RCV000214793.1, RCV000013138.25,


[PMID 11817598] An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.

[PMID 14610673] Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.

[PMID 15492850] Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese.