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rs201045495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201045495(A;A)
Make rs201045495(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position56620664
GeneDST
is asnp
is mentioned by
dbSNPrs201045495
ebirs201045495
HLIrs201045495
Exacrs201045495
Varsomers201045495
Maprs201045495
PheGenIrs201045495
hapmaprs201045495
1000 genomesrs201045495
hgdprs201045495
ensemblrs201045495
gopubmedrs201045495
geneviewrs201045495
scholarrs201045495
googlers201045495
pharmgkbrs201045495
gwascentralrs201045495
openSNPrs201045495
23andMers201045495
23andMe allrs201045495
SNP Nexus

SNPshotrs201045495
SNPdbers201045495
MSV3drs201045495
GWAS Ctlgrs201045495
Max Magnitude0
ClinVar
Risk rs201045495(A;A)
Alt rs201045495(A;A)
Reference rs201045495(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex
Variation info
Gene DST
CLNDBN Epidermolysis bullosa simplex, autosomal recessive 2
Reversed 0
HGVS NC_000006.11:g.56485462G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056254.27,