Have questions? Visit https://www.reddit.com/r/SNPedia

rs28931593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Palmoplantar keratoderma with deafness
(C;C) 0
(G;G) 0 common in clinvar


Make rs28931593(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189358
GeneGJB2
is asnp
is mentioned by
dbSNPrs28931593
ebirs28931593
HLIrs28931593
Exacrs28931593
Varsomers28931593
Maprs28931593
PheGenIrs28931593
hapmaprs28931593
1000 genomesrs28931593
hgdprs28931593
ensemblrs28931593
gopubmedrs28931593
geneviewrs28931593
scholarrs28931593
googlers28931593
pharmgkbrs28931593
gwascentralrs28931593
openSNPrs28931593
23andMers28931593
23andMe allrs28931593
SNP Nexus

SNPshotrs28931593
SNPdbers28931593
MSV3drs28931593
GWAS Ctlgrs28931593
Max Magnitude6
deafness
OMIM121011
DescKERATODERMA, PALMOPLANTAR, WITH DEAFNESS
Variant0026
Relatedalso
Neighborrs28931592
Distance252
Neighborrs28931594
Distance76


ClinVar
Risk rs28931593(A;A)
Alt rs28931593(A;A)
Reference rs28931593(G;G)
Significance Pathogenic
Disease Keratoderma palmoplantar deafness Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Keratoderma palmoplantar deafness Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763497C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018554.27, RCV000018555.28, RCV000210858.1, RCV000211764.1,