Rs104895460

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104895460
PheGenI	rs104895460
nextbio	rs104895460
hapmap	rs104895460
1000 genomes	rs104895460
hgdp	rs104895460
ensembl	rs104895460
gopubmed	rs104895460
geneview	rs104895460
scholar	rs104895460
google	rs104895460
pharmgkb	rs104895460
gwascentral	rs104895460
openSNP	rs104895460
23andMe	rs104895460
23andMe all	rs104895460
SNP Nexus
SNPshot	rs104895460
SNPdbe	rs104895460
MSV3d	rs104895460

Gene

NOD2

Chromosome

16

Orientation

plus

Position

50745227

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs104895460(C;T)

Make rs104895460(T;T)

OMIM	605956
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104895460(T;T)
Normal	rs104895460(C;C)
Significance	5
Disease	Blau syndrome
ClinVar	info
Gene	NOD2
CLNDBN	Blau syndrome
Reversed	0
CLNHGVS	NC_000016.9:g.50745227C>T
CLNSRC	OMIM Allelic Variant

[PMID 11528384] CARD15 mutations in Blau syndrome.