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rs80358213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs80358213(A;A)
Make rs80358213(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position34761820
GeneGJB4
is asnp
is mentioned by
dbSNPrs80358213
ebirs80358213
HLIrs80358213
Exacrs80358213
Varsomers80358213
Maprs80358213
PheGenIrs80358213
hapmaprs80358213
1000 genomesrs80358213
hgdprs80358213
ensemblrs80358213
gopubmedrs80358213
geneviewrs80358213
scholarrs80358213
googlers80358213
pharmgkbrs80358213
gwascentralrs80358213
openSNPrs80358213
23andMers80358213
23andMe allrs80358213
SNP Nexus

SNPshotrs80358213
SNPdbers80358213
MSV3drs80358213
GWAS Ctlgrs80358213
Max Magnitude0
OMIM605425
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80358213(A;A)
Alt rs80358213(A;A)
Reference rs80358213(T;T)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB4
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35227421T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005312.2,