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rs80358207

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs80358207(C;C)
Make rs80358207(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position34761663
GeneGJB4
is asnp
is mentioned by
dbSNPrs80358207
ebirs80358207
HLIrs80358207
Exacrs80358207
Varsomers80358207
Maprs80358207
PheGenIrs80358207
hapmaprs80358207
1000 genomesrs80358207
hgdprs80358207
ensemblrs80358207
gopubmedrs80358207
geneviewrs80358207
scholarrs80358207
googlers80358207
pharmgkbrs80358207
gwascentralrs80358207
openSNPrs80358207
23andMers80358207
23andMe allrs80358207
SNP Nexus

SNPshotrs80358207
SNPdbers80358207
MSV3drs80358207
GWAS Ctlgrs80358207
Max Magnitude0
OMIM605425
Desc
Variant0001
Relatedalso
OMIM605425
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80358207(C;C)
Alt rs80358207(C;C)
Reference rs80358207(T;T)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB4
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35227264T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005307.2,