Rs104895461

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104895461
PheGenI	rs104895461
nextbio	rs104895461
hapmap	rs104895461
1000 genomes	rs104895461
hgdp	rs104895461
ensembl	rs104895461
gopubmed	rs104895461
geneview	rs104895461
scholar	rs104895461
google	rs104895461
pharmgkb	rs104895461
gwascentral	rs104895461
openSNP	rs104895461
23andMe	rs104895461
23andMe all	rs104895461
SNP Nexus
SNPshot	rs104895461
SNPdbe	rs104895461
MSV3d	rs104895461

Gene

NOD2

Chromosome

16

Orientation

plus

Position

50744823

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs104895461(A;A)

Make rs104895461(A;G)

OMIM	605956
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104895461(A;A)
Normal	rs104895461(G;G)
Significance	5
Disease	Blau syndrome
ClinVar	info
Gene	NOD2
CLNDBN	Blau syndrome
Reversed	0
CLNHGVS	NC_000016.9:g.50744823G>A
CLNSRC	OMIM Allelic Variant

[PMID 11528384] CARD15 mutations in Blau syndrome.