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rs786205095

From SNPedia

Orientationminus
Geno Mag Summary
(CGTGT;CGTGT) 0 common in clinvar
Make rs786205095(-;-)
Make rs786205095(-;CGTGT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position209627425
GeneLAMB3
is asnp
is mentioned by
dbSNPrs786205095
ebirs786205095
HLIrs786205095
Exacrs786205095
Varsomers786205095
Maprs786205095
PheGenIrs786205095
hapmaprs786205095
1000 genomesrs786205095
hgdprs786205095
ensemblrs786205095
gopubmedrs786205095
geneviewrs786205095
scholarrs786205095
googlers786205095
pharmgkbrs786205095
gwascentralrs786205095
openSNPrs786205095
23andMers786205095
23andMe allrs786205095
SNP Nexus

SNPshotrs786205095
SNPdbers786205095
MSV3drs786205095
GWAS Ctlgrs786205095
Max Magnitude0
ClinVar
Risk rs786205095(;)
Alt rs786205095(;)
Reference rs786205095(CGTGT;CGTGT)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene LAMB3
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000001.10:g.209800770_209800774delACACG
CLNSRC OMIM Allelic Variant
CLNACC RCV000015648.26,