rs104895477

Orientation

plus

Stabilized

plus

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

Make rs104895477(A;A)

Make rs104895477(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

50711058

Gene

NOD2

is a	snp
is	mentioned by
dbSNP	rs104895477
dbSNP (classic)	rs104895477
ClinGen	rs104895477
ebi	rs104895477
HLI	rs104895477
Exac	rs104895477
Gnomad	rs104895477
Varsome	rs104895477
LitVar	rs104895477
Map	rs104895477
PheGenI	rs104895477
Biobank	rs104895477
1000 genomes	rs104895477
hgdp	rs104895477
ensembl	rs104895477
geneview	rs104895477
scholar	rs104895477
google	rs104895477
pharmgkb	rs104895477
gwascentral	rs104895477
openSNP	rs104895477
23andMe	rs104895477
SNPshot	rs104895477
SNPdbe	rs104895477
MSV3d	rs104895477
GWAS Ctlg	rs104895477

Max Magnitude

0

OMIM	605956
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104895477(A;A) rs104895477(T;T)
Alt	rs104895477(A;A) rs104895477(T;T)
Reference	Rs104895477(G;G)
Significance	Pathogenic
Disease	Blau syndrome Sarcoidosis
Variation	info
Gene	NOD2
CLNDBN	Blau syndrome Sarcoidosis, early-onset
Reversed	0
HGVS	NC_000016.9:g.50744969G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004966.5, RCV000084076.1,

[PMID 15812565] A new CARD15 mutation in Blau syndrome.