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rs786204732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204732(G;G)
Make rs786204732(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23921587
GeneLAMA3
is asnp
is mentioned by
dbSNPrs786204732
dbSNP (classic)rs786204732
ClinGenrs786204732
ebirs786204732
HLIrs786204732
Exacrs786204732
Gnomadrs786204732
Varsomers786204732
LitVarrs786204732
Maprs786204732
PheGenIrs786204732
Biobankrs786204732
1000 genomesrs786204732
hgdprs786204732
ensemblrs786204732
geneviewrs786204732
scholarrs786204732
googlers786204732
pharmgkbrs786204732
gwascentralrs786204732
openSNPrs786204732
23andMers786204732
SNPshotrs786204732
SNPdbers786204732
MSV3drs786204732
GWAS Ctlgrs786204732
Max Magnitude0
ClinVar
Risk rs786204732(G;G)
Alt rs786204732(G;G)
Reference Rs786204732(T;T)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMA3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000018.9:g.21501551T>G
CLNSRC Counsyl
CLNACC RCV000169576.1,