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rs776142807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs776142807(-;-)
Make rs776142807(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183235622
GeneLAMC2
is asnp
is mentioned by
dbSNPrs776142807
dbSNP (classic)rs776142807
ClinGenrs776142807
ebirs776142807
HLIrs776142807
Exacrs776142807
Gnomadrs776142807
Varsomers776142807
LitVarrs776142807
Maprs776142807
PheGenIrs776142807
Biobankrs776142807
1000 genomesrs776142807
hgdprs776142807
ensemblrs776142807
geneviewrs776142807
scholarrs776142807
googlers776142807
pharmgkbrs776142807
gwascentralrs776142807
openSNPrs776142807
23andMers776142807
SNPshotrs776142807
SNPdbers776142807
MSV3drs776142807
GWAS Ctlgrs776142807
Max Magnitude0
ClinVar
Risk rs776142807(-;-)
Alt rs776142807(-;-)
Reference Rs776142807(A;A)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMC2
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000001.10:g.183204757delA
CLNSRC
CLNACC RCV000412295.1,