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rs774133746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs774133746(C;T)
Make rs774133746(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23928148
GeneLAMA3
is asnp
is mentioned by
dbSNPrs774133746
dbSNP (classic)rs774133746
ClinGenrs774133746
ebirs774133746
HLIrs774133746
Exacrs774133746
Gnomadrs774133746
Varsomers774133746
LitVarrs774133746
Maprs774133746
PheGenIrs774133746
Biobankrs774133746
1000 genomesrs774133746
hgdprs774133746
ensemblrs774133746
geneviewrs774133746
scholarrs774133746
googlers774133746
pharmgkbrs774133746
gwascentralrs774133746
openSNPrs774133746
23andMers774133746
SNPshotrs774133746
SNPdbers774133746
MSV3drs774133746
GWAS Ctlgrs774133746
Max Magnitude0
ClinVar
Risk rs774133746(T;T)
Alt rs774133746(T;T)
Reference Rs774133746(C;C)
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.21508112C>T
CLNSRC
CLNACC RCV000411334.1,