Have questions? Visit https://www.reddit.com/r/SNPedia

rs1380866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1380866(A;A)
Make rs1380866(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31475994
GeneDSG3
is asnp
is mentioned by
dbSNPrs1380866
ebirs1380866
HLIrs1380866
Exacrs1380866
Varsomers1380866
Maprs1380866
PheGenIrs1380866
hapmaprs1380866
1000 genomesrs1380866
hgdprs1380866
ensemblrs1380866
gopubmedrs1380866
geneviewrs1380866
scholarrs1380866
googlers1380866
pharmgkbrs1380866
gwascentralrs1380866
openSNPrs1380866
23andMers1380866
23andMe allrs1380866
SNP Nexus

SNPshotrs1380866
SNPdbers1380866
MSV3drs1380866
GWAS Ctlgrs1380866
GMAF0.001377
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene DSG3
allele G
frequency 1
sift TOLERATED
HuRef 1103645166872
Disease Association Pemphigus vulgaris (PV) is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion caused by the action of autoantibodies against desmoglein 3.



GET Evidence
DSG3-T912A
aa_change Thr912Ala
aa_change_short T912A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.998234
summary