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rs4972946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs4972946(A;G)
Make rs4972946(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position230284393
GeneSP140
is asnp
is mentioned by
dbSNPrs4972946
ebirs4972946
HLIrs4972946
Exacrs4972946
Varsomers4972946
Maprs4972946
PheGenIrs4972946
hapmaprs4972946
1000 genomesrs4972946
hgdprs4972946
ensemblrs4972946
gopubmedrs4972946
geneviewrs4972946
scholarrs4972946
googlers4972946
pharmgkbrs4972946
gwascentralrs4972946
openSNPrs4972946
23andMers4972946
23andMe allrs4972946
SNP Nexus

SNPshotrs4972946
SNPdbers4972946
MSV3drs4972946
GWAS Ctlgrs4972946
GMAF0.03949
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SP140
allele A
frequency 0.119
sift TOLERATED
HuRef 1103658390755
Disease Association This antigen is recognized by autoantibodies from patients with primary biliary cirrhosis.



GET Evidence
SP140-E516K
aa_change Glu516Lys
aa_change_short E516K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.939988
summary