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rs398122952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122952(A;A)
Make rs398122952(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31326580
GeneDSG1
is asnp
is mentioned by
dbSNPrs398122952
ebirs398122952
HLIrs398122952
Exacrs398122952
Varsomers398122952
Maprs398122952
PheGenIrs398122952
hapmaprs398122952
1000 genomesrs398122952
hgdprs398122952
ensemblrs398122952
gopubmedrs398122952
geneviewrs398122952
scholarrs398122952
googlers398122952
pharmgkbrs398122952
gwascentralrs398122952
openSNPrs398122952
23andMers398122952
23andMe allrs398122952
SNP Nexus

SNPshotrs398122952
SNPdbers398122952
MSV3drs398122952
GWAS Ctlgrs398122952
Max Magnitude0
ClinVar
Risk rs398122952(A;A)
Alt rs398122952(A;A)
Reference rs398122952(G;G)
Significance Pathogenic
Disease Erythroderma
Variation info
Gene DSG1
CLNDBN Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
Reversed 0
HGVS NC_000018.9:g.28906543G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074355.2,