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rs1062087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(T;T) 0
Make rs1062087(A;A)
Make rs1062087(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position75310080
GeneTBC1D4
is asnp
is mentioned by
dbSNPrs1062087
ebirs1062087
HLIrs1062087
Exacrs1062087
Varsomers1062087
Maprs1062087
PheGenIrs1062087
hapmaprs1062087
1000 genomesrs1062087
hgdprs1062087
ensemblrs1062087
gopubmedrs1062087
geneviewrs1062087
scholarrs1062087
googlers1062087
pharmgkbrs1062087
gwascentralrs1062087
openSNPrs1062087
23andMers1062087
23andMe allrs1062087
SNP Nexus

SNPshotrs1062087
SNPdbers1062087
MSV3drs1062087
GWAS Ctlgrs1062087
GMAF0.2815
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene TBC1D4
allele T
frequency 0.925
sift TOLERATED
HuRef 1103649268365
Disease Association May be involved in atopic dermatitis (AD).



GET Evidence
TBC1D4-V819I
aa_change Val819Ile
aa_change_short V819I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.766729
summary



ClinVar
Risk rs1062087(A;A)
Alt rs1062087(A;A)
Reference rs1062087(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene TBC1D4
CLNDBN not specified
Reversed 1
HGVS NC_000013.10:g.75884216C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000118589.2,