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rs2071152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs2071152(A;G)
Make rs2071152(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44083240
GeneTRAPPC10
is asnp
is mentioned by
dbSNPrs2071152
ebirs2071152
HLIrs2071152
Exacrs2071152
Varsomers2071152
Maprs2071152
PheGenIrs2071152
hapmaprs2071152
1000 genomesrs2071152
hgdprs2071152
ensemblrs2071152
gopubmedrs2071152
geneviewrs2071152
scholarrs2071152
googlers2071152
pharmgkbrs2071152
gwascentralrs2071152
openSNPrs2071152
23andMers2071152
23andMe allrs2071152
SNP Nexus

SNPshotrs2071152
SNPdbers2071152
MSV3drs2071152
GWAS Ctlgrs2071152
GMAF0.3186
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene TMEM1
allele A
frequency 0
sift TOLERATED
HuRef 1103643131080
Disease Association Candidate for autoimmune polyglandular disease type 1 (APECED).



GET Evidence
TRAPPC10-V726M
aa_change Val726Met
aa_change_short V726M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.314092
summary