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rs80358206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs80358206(A;A)
Make rs80358206(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position34761665
GeneGJB4
is asnp
is mentioned by
dbSNPrs80358206
ebirs80358206
HLIrs80358206
Exacrs80358206
Varsomers80358206
Maprs80358206
PheGenIrs80358206
hapmaprs80358206
1000 genomesrs80358206
hgdprs80358206
ensemblrs80358206
gopubmedrs80358206
geneviewrs80358206
scholarrs80358206
googlers80358206
pharmgkbrs80358206
gwascentralrs80358206
openSNPrs80358206
23andMers80358206
23andMe allrs80358206
SNP Nexus

SNPshotrs80358206
SNPdbers80358206
MSV3drs80358206
GWAS Ctlgrs80358206
Max Magnitude0
OMIM605425
Desc
Variant0001
Relatedalso
OMIM605425
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80358206(A,T;A,T)
Alt rs80358206(A,T;A,T)
Reference rs80358206(C;C)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB4
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35227266C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005308.2,