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rs118203900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203900(A;A)
Make rs118203900(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position183228564
GeneLAMC2
is asnp
is mentioned by
dbSNPrs118203900
ebirs118203900
HLIrs118203900
Exacrs118203900
Varsomers118203900
Maprs118203900
PheGenIrs118203900
hapmaprs118203900
1000 genomesrs118203900
hgdprs118203900
ensemblrs118203900
gopubmedrs118203900
geneviewrs118203900
scholarrs118203900
googlers118203900
pharmgkbrs118203900
gwascentralrs118203900
openSNPrs118203900
23andMers118203900
23andMe allrs118203900
SNP Nexus

SNPshotrs118203900
SNPdbers118203900
MSV3drs118203900
GWAS Ctlgrs118203900
Max Magnitude0
OMIM150292
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203900(A;A)
Alt rs118203900(A;A)
Reference rs118203900(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.183197699C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015658.25,