rs104895462

Orientation

plus

Stabilized

plus

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

Make rs104895462(C;T)

Make rs104895462(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

50710911

Gene

NOD2

is a	snp
is	mentioned by
dbSNP	rs104895462
dbSNP (classic)	rs104895462
ClinGen	rs104895462
ebi	rs104895462
HLI	rs104895462
Exac	rs104895462
Gnomad	rs104895462
Varsome	rs104895462
LitVar	rs104895462
Map	rs104895462
PheGenI	rs104895462
Biobank	rs104895462
1000 genomes	rs104895462
hgdp	rs104895462
ensembl	rs104895462
geneview	rs104895462
scholar	rs104895462
google	rs104895462
pharmgkb	rs104895462
gwascentral	rs104895462
openSNP	rs104895462
23andMe	rs104895462
SNPshot	rs104895462
SNPdbe	rs104895462
MSV3d	rs104895462
GWAS Ctlg	rs104895462

Max Magnitude

0

OMIM	605956
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104895462(T;T)
Alt	rs104895462(T;T)
Reference	Rs104895462(C;C)
Significance	Pathogenic
Disease	Blau syndrome Sarcoidosis
Variation	info
Gene	NOD2
CLNDBN	Blau syndrome Sarcoidosis, early-onset
Reversed	0
HGVS	NC_000016.9:g.50744822C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004960.5, RCV000004961.5,

[PMID 11528384] CARD15 mutations in Blau syndrome.