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rs118203899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203899(C;G)
Make rs118203899(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position183225719
GeneLAMC2
is asnp
is mentioned by
dbSNPrs118203899
ebirs118203899
HLIrs118203899
Exacrs118203899
Varsomers118203899
Maprs118203899
PheGenIrs118203899
hapmaprs118203899
1000 genomesrs118203899
hgdprs118203899
ensemblrs118203899
gopubmedrs118203899
geneviewrs118203899
scholarrs118203899
googlers118203899
pharmgkbrs118203899
gwascentralrs118203899
openSNPrs118203899
23andMers118203899
23andMe allrs118203899
SNP Nexus

SNPshotrs118203899
SNPdbers118203899
MSV3drs118203899
GWAS Ctlgrs118203899
Max Magnitude0
OMIM150292
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203899(G;G)
Alt rs118203899(G;G)
Reference rs118203899(C;C)
Significance 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.183194854C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015657.25,