Have questions? Visit https://www.reddit.com/r/SNPedia

rs104895438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895438(A;A)
Make rs104895438(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position50711745
GeneNOD2
is asnp
is mentioned by
dbSNPrs104895438
dbSNP (classic)rs104895438
ClinGenrs104895438
ebirs104895438
HLIrs104895438
Exacrs104895438
Gnomadrs104895438
Varsomers104895438
LitVarrs104895438
Maprs104895438
PheGenIrs104895438
Biobankrs104895438
1000 genomesrs104895438
hgdprs104895438
ensemblrs104895438
geneviewrs104895438
scholarrs104895438
googlers104895438
pharmgkbrs104895438
gwascentralrs104895438
openSNPrs104895438
23andMers104895438
SNPshotrs104895438
SNPdbers104895438
MSV3drs104895438
GWAS Ctlgrs104895438
Max Magnitude0
OMIM605956
Desc
Variant0010
Relatedalso
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.