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rs80358212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs80358212(A;A)
Make rs80358212(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position34761319
GeneGJB4
is asnp
is mentioned by
dbSNPrs80358212
ebirs80358212
HLIrs80358212
Exacrs80358212
Varsomers80358212
Maprs80358212
PheGenIrs80358212
hapmaprs80358212
1000 genomesrs80358212
hgdprs80358212
ensemblrs80358212
gopubmedrs80358212
geneviewrs80358212
scholarrs80358212
googlers80358212
pharmgkbrs80358212
gwascentralrs80358212
openSNPrs80358212
23andMers80358212
23andMe allrs80358212
SNP Nexus

SNPshotrs80358212
SNPdbers80358212
MSV3drs80358212
GWAS Ctlgrs80358212
Max Magnitude0
OMIM605425
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80358212(A,T;A,T)
Alt rs80358212(A,T;A,T)
Reference rs80358212(G;G)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB4
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35226920G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005311.2,