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rs80358210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs80358210(A;C)
Make rs80358210(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position34761507
GeneGJB4
is asnp
is mentioned by
dbSNPrs80358210
ebirs80358210
HLIrs80358210
Exacrs80358210
Varsomers80358210
Maprs80358210
PheGenIrs80358210
hapmaprs80358210
1000 genomesrs80358210
hgdprs80358210
ensemblrs80358210
gopubmedrs80358210
geneviewrs80358210
scholarrs80358210
googlers80358210
pharmgkbrs80358210
gwascentralrs80358210
openSNPrs80358210
23andMers80358210
23andMe allrs80358210
SNP Nexus

SNPshotrs80358210
SNPdbers80358210
MSV3drs80358210
GWAS Ctlgrs80358210
Max Magnitude0
OMIM605425
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80358210(C;C)
Alt rs80358210(C;C)
Reference rs80358210(A;A)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB4
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35227108A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005309.2,