rs104895438

Orientation

plus

Stabilized

plus

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

Make rs104895438(A;A)

Make rs104895438(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

50711745

Gene

NOD2

is a	snp
is	mentioned by
dbSNP	rs104895438
dbSNP (classic)	rs104895438
ClinGen	rs104895438
ebi	rs104895438
HLI	rs104895438
Exac	rs104895438
Gnomad	rs104895438
Varsome	rs104895438
LitVar	rs104895438
Map	rs104895438
PheGenI	rs104895438
Biobank	rs104895438
1000 genomes	rs104895438
hgdp	rs104895438
ensembl	rs104895438
geneview	rs104895438
scholar	rs104895438
google	rs104895438
pharmgkb	rs104895438
gwascentral	rs104895438
openSNP	rs104895438
23andMe	rs104895438
SNPshot	rs104895438
SNPdbe	rs104895438
MSV3d	rs104895438
GWAS Ctlg	rs104895438

Max Magnitude

0

OMIM	605956
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104895438(A;A) rs104895438(T;T)
Alt	rs104895438(A;A) rs104895438(T;T)
Reference	Rs104895438(G;G)
Significance	Other
Disease	Sarcoidosis Crohn disease Blau syndrome
Variation	info
Gene	NOD2
CLNDBN	Sarcoidosis, early-onset Crohn disease Blau syndrome
Reversed	0
HGVS	NC_000016.9:g.50745656G>A; NC_000016.9:g.50745656G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004965.6, RCV000271343.1, RCV000328692.4, RCV000293577.1, RCV000385541.1,

[PMID 11385576] Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.