rs104895228

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs104895228(C;C)

Make rs104895228(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

6333764

Gene

TNFRSF1A

is a	snp
is	mentioned by
dbSNP	rs104895228
dbSNP (classic)	rs104895228
ClinGen	rs104895228
ebi	rs104895228
HLI	rs104895228
Exac	rs104895228
Gnomad	rs104895228
Varsome	rs104895228
LitVar	rs104895228
Map	rs104895228
PheGenI	rs104895228
Biobank	rs104895228
1000 genomes	rs104895228
hgdp	rs104895228
ensembl	rs104895228
geneview	rs104895228
scholar	rs104895228
google	rs104895228
pharmgkb	rs104895228
gwascentral	rs104895228
openSNP	rs104895228
23andMe	rs104895228
SNPshot	rs104895228
SNPdbe	rs104895228
MSV3d	rs104895228
GWAS Ctlg	rs104895228

Max Magnitude

0

OMIM	191190
Desc
Variant	0011
Related	also

OMIM	142680
Desc
Variant
Related	also

ClinVar
Risk	rs104895228(A;A) rs104895228(C;C) rs104895228(G;G)
Alt	rs104895228(A;A) rs104895228(C;C) rs104895228(G;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 UniProtKB (protein)
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.