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rs2073347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2073347(C;T)
Make rs2073347(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50757071
GeneNIN
is asnp
is mentioned by
dbSNPrs2073347
ebirs2073347
HLIrs2073347
Exacrs2073347
Varsomers2073347
Maprs2073347
PheGenIrs2073347
hapmaprs2073347
1000 genomesrs2073347
hgdprs2073347
ensemblrs2073347
gopubmedrs2073347
geneviewrs2073347
scholarrs2073347
googlers2073347
pharmgkbrs2073347
gwascentralrs2073347
openSNPrs2073347
23andMers2073347
23andMe allrs2073347
SNP Nexus

SNPshotrs2073347
SNPdbers2073347
MSV3drs2073347
GWAS Ctlgrs2073347
GMAF0.2314
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene NIN
allele T
frequency 0.792
sift TOLERATED
HuRef 1103649060186
Disease Association Antibodies against NIN are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.



Neighborrs2236316
Distance628


GET Evidence
NIN-G1320E
aa_change Gly1320Glu
aa_change_short G1320E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.792341
summary



ClinVar
Risk rs2073347(T;T)
Alt rs2073347(T;T)
Reference rs2073347(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NIN
CLNDBN not specified
Reversed 0
HGVS NC_000014.8:g.51223789C>T
CLNSRC
CLNACC RCV000175357.1,