rs104895460

Orientation

plus

Stabilized

plus

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

Make rs104895460(C;T)

Make rs104895460(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

50711316

Gene

NOD2

is a	snp
is	mentioned by
dbSNP	rs104895460
dbSNP (classic)	rs104895460
ClinGen	rs104895460
ebi	rs104895460
HLI	rs104895460
Exac	rs104895460
Gnomad	rs104895460
Varsome	rs104895460
LitVar	rs104895460
Map	rs104895460
PheGenI	rs104895460
Biobank	rs104895460
1000 genomes	rs104895460
hgdp	rs104895460
ensembl	rs104895460
geneview	rs104895460
scholar	rs104895460
google	rs104895460
pharmgkb	rs104895460
gwascentral	rs104895460
openSNP	rs104895460
23andMe	rs104895460
SNPshot	rs104895460
SNPdbe	rs104895460
MSV3d	rs104895460
GWAS Ctlg	rs104895460

Max Magnitude

0

OMIM	605956
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104895460(T;T)
Alt	rs104895460(T;T)
Reference	Rs104895460(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.50745227C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004959.4, RCV000084086.1,

[PMID 11528384] CARD15 mutations in Blau syndrome.