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rs759509443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs759509443(A;A)
Make rs759509443(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183208070
GeneLAMC2
is asnp
is mentioned by
dbSNPrs759509443
dbSNP (classic)rs759509443
ClinGenrs759509443
ebirs759509443
HLIrs759509443
Exacrs759509443
Gnomadrs759509443
Varsomers759509443
LitVarrs759509443
Maprs759509443
PheGenIrs759509443
Biobankrs759509443
1000 genomesrs759509443
hgdprs759509443
ensemblrs759509443
geneviewrs759509443
scholarrs759509443
googlers759509443
pharmgkbrs759509443
gwascentralrs759509443
openSNPrs759509443
23andMers759509443
SNPshotrs759509443
SNPdbers759509443
MSV3drs759509443
GWAS Ctlgrs759509443
Max Magnitude0
ClinVar
Risk rs759509443(A;A)
Alt rs759509443(A;A)
Reference Rs759509443(G;G)
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.183177205G>A
CLNSRC
CLNACC RCV000411347.1,