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rs398122943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122943(A;T)
Make rs398122943(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position56620289
GeneDST
is asnp
is mentioned by
dbSNPrs398122943
ebirs398122943
HLIrs398122943
Exacrs398122943
Varsomers398122943
Maprs398122943
PheGenIrs398122943
hapmaprs398122943
1000 genomesrs398122943
hgdprs398122943
ensemblrs398122943
gopubmedrs398122943
geneviewrs398122943
scholarrs398122943
googlers398122943
pharmgkbrs398122943
gwascentralrs398122943
openSNPrs398122943
23andMers398122943
23andMe allrs398122943
SNP Nexus

SNPshotrs398122943
SNPdbers398122943
MSV3drs398122943
GWAS Ctlgrs398122943
Max Magnitude0
ClinVar
Risk rs398122943(T;T)
Alt rs398122943(T;T)
Reference rs398122943(A;A)
Significance Pathogenic
Disease Epidermolysis bullosa simplex
Variation info
Gene DST
CLNDBN Epidermolysis bullosa simplex, autosomal recessive 2
Reversed 1
HGVS NC_000006.11:g.56485087T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056255.27,