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rs4799570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs4799570(A;A)
Make rs4799570(A;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position31406370
GeneDSG4, RP11-534N16.1
is asnp
is mentioned by
dbSNPrs4799570
ebirs4799570
HLIrs4799570
Exacrs4799570
Varsomers4799570
Maprs4799570
PheGenIrs4799570
hapmaprs4799570
1000 genomesrs4799570
hgdprs4799570
ensemblrs4799570
gopubmedrs4799570
geneviewrs4799570
scholarrs4799570
googlers4799570
pharmgkbrs4799570
gwascentralrs4799570
openSNPrs4799570
23andMers4799570
23andMe allrs4799570
SNP Nexus

SNPshotrs4799570
SNPdbers4799570
MSV3drs4799570
GWAS Ctlgrs4799570
GMAF0.04086
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene DSG4
allele C
frequency 0.875
sift TOLERATED
HuRef 1103645166785
Disease Association DSG4 is one of the target molecules recognized by autoantibodies in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion.



GET Evidence
DSG4-I644L
aa_change Ile644Leu
aa_change_short I644L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.927217
summary