Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356683(C;T)
Make rs80356683(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position183215467
GeneLAMC2
is asnp
is mentioned by
dbSNPrs80356683
ebirs80356683
HLIrs80356683
Exacrs80356683
Varsomers80356683
Maprs80356683
PheGenIrs80356683
hapmaprs80356683
1000 genomesrs80356683
hgdprs80356683
ensemblrs80356683
gopubmedrs80356683
geneviewrs80356683
scholarrs80356683
googlers80356683
pharmgkbrs80356683
gwascentralrs80356683
openSNPrs80356683
23andMers80356683
23andMe allrs80356683
SNP Nexus

SNPshotrs80356683
SNPdbers80356683
MSV3drs80356683
GWAS Ctlgrs80356683
Max Magnitude0
OMIM150292
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356683(T;T)
Alt rs80356683(T;T)
Reference rs80356683(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.183184602C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015656.26,


[PMID 8012394] Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).