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rs28937583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs28937583(C;C)
Make rs28937583(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position34784863
GeneGJB3
is asnp
is mentioned by
dbSNPrs28937583
ebirs28937583
HLIrs28937583
Exacrs28937583
Varsomers28937583
Maprs28937583
PheGenIrs28937583
hapmaprs28937583
1000 genomesrs28937583
hgdprs28937583
ensemblrs28937583
gopubmedrs28937583
geneviewrs28937583
scholarrs28937583
googlers28937583
pharmgkbrs28937583
gwascentralrs28937583
openSNPrs28937583
23andMers28937583
23andMe allrs28937583
SNP Nexus

SNPshotrs28937583
SNPdbers28937583
MSV3drs28937583
GWAS Ctlgrs28937583
Max Magnitude0
OMIM603324
DescERYTHROKERATODERMIA VARIABILIS, AUTOSOMAL RECESSIVE
Variant0010
Relatedalso


ClinVar
Risk rs28937583(C;C)
Alt rs28937583(C;C)
Reference rs28937583(T;T)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB3
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35250464T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006864.3,