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rs387907079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907079(C;G)
Make rs387907079(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position77918217
GeneNEXN
is asnp
is mentioned by
dbSNPrs387907079
dbSNP (classic)rs387907079
ClinGenrs387907079
ebirs387907079
HLIrs387907079
Exacrs387907079
Gnomadrs387907079
Varsomers387907079
LitVarrs387907079
Maprs387907079
PheGenIrs387907079
Biobankrs387907079
1000 genomesrs387907079
hgdprs387907079
ensemblrs387907079
geneviewrs387907079
scholarrs387907079
googlers387907079
pharmgkbrs387907079
gwascentralrs387907079
openSNPrs387907079
23andMers387907079
SNPshotrs387907079
SNPdbers387907079
MSV3drs387907079
GWAS Ctlgrs387907079
Max Magnitude0
ClinVar
Risk rs387907079(G;G)
Alt rs387907079(G;G)
Reference Rs387907079(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 20
Variation info
Gene NEXN
CLNDBN Familial hypertrophic cardiomyopathy 20
Reversed 0
HGVS NC_000001.10:g.78383902C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023984.3,