Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516539

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516539(A;A)
Make rs1057516539(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209633069
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516539
dbSNP (old)rs1057516539
ClinGenrs1057516539
ebirs1057516539
HLIrs1057516539
Exacrs1057516539
Gnomadrs1057516539
Varsomers1057516539
Maprs1057516539
PheGenIrs1057516539
Biobankrs1057516539
1000 genomesrs1057516539
hgdprs1057516539
ensemblrs1057516539
gopubmedrs1057516539
geneviewrs1057516539
scholarrs1057516539
googlers1057516539
pharmgkbrs1057516539
gwascentralrs1057516539
openSNPrs1057516539
23andMers1057516539
23andMe allrs1057516539
SNPshotrs1057516539
SNPdbers1057516539
MSV3drs1057516539
GWAS Ctlgrs1057516539
Max Magnitude0
ClinVar
Risk rs1057516539(A;A)
Alt rs1057516539(A;A)
Reference Rs1057516539(G;G)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 1
HGVS NC_000001.10:g.209806414C>T
CLNSRC
CLNACC RCV000411875.1,