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rs753268823

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs753268823(C;T)
Make rs753268823(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position183222115
GeneLAMC2
is asnp
is mentioned by
dbSNPrs753268823
ebirs753268823
HLIrs753268823
Exacrs753268823
Varsomers753268823
Maprs753268823
PheGenIrs753268823
hapmaprs753268823
1000 genomesrs753268823
hgdprs753268823
ensemblrs753268823
gopubmedrs753268823
geneviewrs753268823
scholarrs753268823
googlers753268823
pharmgkbrs753268823
gwascentralrs753268823
openSNPrs753268823
23andMers753268823
23andMe allrs753268823
SNP Nexus

SNPshotrs753268823
SNPdbers753268823
MSV3drs753268823
GWAS Ctlgrs753268823
Max Magnitude0
ClinVar
Risk rs753268823(T;T)
Alt rs753268823(T;T)
Reference rs753268823(C;C)
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.183191250C>T
CLNSRC
CLNACC RCV000169121.1,