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rs794729201

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729201(-;-)
Make rs794729201(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position74068685
GeneELN
is asnp
is mentioned by
dbSNPrs794729201
ebirs794729201
HLIrs794729201
Exacrs794729201
Varsomers794729201
Maprs794729201
PheGenIrs794729201
hapmaprs794729201
1000 genomesrs794729201
hgdprs794729201
ensemblrs794729201
gopubmedrs794729201
geneviewrs794729201
scholarrs794729201
googlers794729201
pharmgkbrs794729201
gwascentralrs794729201
openSNPrs794729201
23andMers794729201
23andMe allrs794729201
SNP Nexus

SNPshotrs794729201
SNPdbers794729201
MSV3drs794729201
GWAS Ctlgrs794729201
Max Magnitude0
ClinVar
Risk rs794729201(;)
Alt rs794729201(;)
Reference rs794729201(C;C)
Significance Probable-Pathogenic
Disease Cutis laxa
Variation info
Gene ELN
CLNDBN Cutis laxa, autosomal dominant
Reversed 0
HGVS NC_000007.13:g.73483015delC
CLNSRC
CLNACC RCV000184020.1,