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rs121912840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912840(C;C)
Make rs121912840(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48581483
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912840
ebirs121912840
HLIrs121912840
Exacrs121912840
Varsomers121912840
Maprs121912840
PheGenIrs121912840
hapmaprs121912840
1000 genomesrs121912840
hgdprs121912840
ensemblrs121912840
gopubmedrs121912840
geneviewrs121912840
scholarrs121912840
googlers121912840
pharmgkbrs121912840
gwascentralrs121912840
openSNPrs121912840
23andMers121912840
23andMe allrs121912840
SNP Nexus

SNPshotrs121912840
SNPdbers121912840
MSV3drs121912840
GWAS Ctlgrs121912840
Max Magnitude0
OMIM120120
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121912840(C;C)
Alt rs121912840(C;C)
Reference rs121912840(G;G)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa Nail disorder
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa Nail disorder, nonsyndromic congenital, 8
Reversed 1
HGVS NC_000003.11:g.48618916C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018993.27, RCV000022474.27,


[PMID 11843659] Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.