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rs557337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs557337(A;G)
Make rs557337(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position75286865
GeneTBC1D4
is asnp
is mentioned by
dbSNPrs557337
ebirs557337
HLIrs557337
Exacrs557337
Varsomers557337
Maprs557337
PheGenIrs557337
hapmaprs557337
1000 genomesrs557337
hgdprs557337
ensemblrs557337
gopubmedrs557337
geneviewrs557337
scholarrs557337
googlers557337
pharmgkbrs557337
gwascentralrs557337
openSNPrs557337
23andMers557337
23andMe allrs557337
SNP Nexus

SNPshotrs557337
SNPdbers557337
MSV3drs557337
GWAS Ctlgrs557337
GMAF0.1524
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene TBC1D4
allele G
frequency 0.058
sift TOLERATED
HuRef 1103649268294
Disease Association May be involved in atopic dermatitis (AD).



GET Evidence
TBC1D4-V1275A
aa_change Val1275Ala
aa_change_short V1275A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.185895
summary



ClinVar
Risk rs557337(G;G)
Alt rs557337(G;G)
Reference rs557337(A;A)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene TBC1D4
CLNDBN not specified
Reversed 0
HGVS NC_000013.10:g.75861001A>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000118977.2,