rs104895461

Orientation

plus

Stabilized

plus

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

Make rs104895461(A;A)

Make rs104895461(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

50710912

Gene

NOD2

is a	snp
is	mentioned by
dbSNP	rs104895461
dbSNP (classic)	rs104895461
ClinGen	rs104895461
ebi	rs104895461
HLI	rs104895461
Exac	rs104895461
Gnomad	rs104895461
Varsome	rs104895461
LitVar	rs104895461
Map	rs104895461
PheGenI	rs104895461
Biobank	rs104895461
1000 genomes	rs104895461
hgdp	rs104895461
ensembl	rs104895461
geneview	rs104895461
scholar	rs104895461
google	rs104895461
pharmgkb	rs104895461
gwascentral	rs104895461
openSNP	rs104895461
23andMe	rs104895461
SNPshot	rs104895461
SNPdbe	rs104895461
MSV3d	rs104895461
GWAS Ctlg	rs104895461

Max Magnitude

0

OMIM	605956
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104895461(A;A)
Alt	rs104895461(A;A)
Reference	Rs104895461(G;G)
Significance	Pathogenic
Disease	Blau syndrome Sarcoidosis not provided
Variation	info
Gene	NOD2
CLNDBN	Blau syndrome Sarcoidosis, early-onset not provided
Reversed	0
HGVS	NC_000016.9:g.50744823G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004958.4, RCV000084070.1, RCV000482720.1,

[PMID 11528384] CARD15 mutations in Blau syndrome.