rs104895564

Orientation

minus

Stabilized

minus

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

Make rs104895564(C;T)

Make rs104895564(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

53810809

Gene

NLRP12

is a	snp
is	mentioned by
dbSNP	rs104895564
dbSNP (classic)	rs104895564
ClinGen	rs104895564
ebi	rs104895564
HLI	rs104895564
Exac	rs104895564
Gnomad	rs104895564
Varsome	rs104895564
LitVar	rs104895564
Map	rs104895564
PheGenI	rs104895564
Biobank	rs104895564
1000 genomes	rs104895564
hgdp	rs104895564
ensembl	rs104895564
geneview	rs104895564
scholar	rs104895564
google	rs104895564
pharmgkb	rs104895564
gwascentral	rs104895564
openSNP	rs104895564
23andMe	rs104895564
SNPshot	rs104895564
SNPdbe	rs104895564
MSV3d	rs104895564
GWAS Ctlg	rs104895564

GMAF

0.005969

Max Magnitude

0

OMIM	609648
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104895564(T;T)
Alt	rs104895564(T;T)
Reference	Rs104895564(C;C)
Significance	Pathogenic
Disease	Familial cold autoinflammatory syndrome 2 not provided
Variation	info
Gene	NLRP12
CLNDBN	Familial cold autoinflammatory syndrome 2 not provided
Reversed	1
HGVS	NC_000019.9:g.54314063G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001663.2, RCV000084149.1,

[PMID 18230725] Mutations in NALP12 cause hereditary periodic fever syndromes.