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rs374419983

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374419983(A;A)
Make rs374419983(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143939416
GenePLEC
is asnp
is mentioned by
dbSNPrs374419983
ebirs374419983
HLIrs374419983
Exacrs374419983
Varsomers374419983
Maprs374419983
PheGenIrs374419983
hapmaprs374419983
1000 genomesrs374419983
hgdprs374419983
ensemblrs374419983
gopubmedrs374419983
geneviewrs374419983
scholarrs374419983
googlers374419983
pharmgkbrs374419983
gwascentralrs374419983
openSNPrs374419983
23andMers374419983
23andMe allrs374419983
SNP Nexus

SNPshotrs374419983
SNPdbers374419983
MSV3drs374419983
GWAS Ctlgrs374419983
Max Magnitude0
ClinVar
Risk rs374419983(A,C;A,C)
Alt rs374419983(A,C;A,C)
Reference rs374419983(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex with nail dystrophy
Variation info
Gene PLEC
CLNDBN Epidermolysis bullosa simplex with nail dystrophy
Reversed 0
HGVS NC_000008.10:g.145013584G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000186559.5,