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rs398122400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122400(-;-)
Make rs398122400(-;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31343965
GeneDSG1, DSG1-AS1
is asnp
is mentioned by
dbSNPrs398122400
dbSNP (classic)rs398122400
ClinGenrs398122400
ebirs398122400
HLIrs398122400
Exacrs398122400
Gnomadrs398122400
Varsomers398122400
LitVarrs398122400
Maprs398122400
PheGenIrs398122400
Biobankrs398122400
1000 genomesrs398122400
hgdprs398122400
ensemblrs398122400
geneviewrs398122400
scholarrs398122400
googlers398122400
pharmgkbrs398122400
gwascentralrs398122400
openSNPrs398122400
23andMers398122400
SNPshotrs398122400
SNPdbers398122400
MSV3drs398122400
GWAS Ctlgrs398122400
Max Magnitude0
ClinVar
Risk rs398122400(-;-)
Alt rs398122400(-;-)
Reference Rs398122400(G;G)
Significance Pathogenic
Disease Erythroderma
Variation info
Gene DSG1-AS1 LOC101927718 DSG1
CLNDBN Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
Reversed 0
HGVS NC_000018.9:g.28923928delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000074356.18,