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rs28931594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Deafness and keratitis; possible dominant or recessive
(A;G) 6 Deafness and keratitis; possible dominant or recessive
(G;G) 0 common in clinvar
(G;T) 6 Deafness and keratitis; possible dominant or recessive
(T;T) 6 Deafness and keratitis; possible dominant or recessive
ReferenceGRCh38 38.1/141
Chromosome13
Position20189434
GeneGJB2
is asnp
is mentioned by
dbSNPrs28931594
ebirs28931594
HLIrs28931594
Exacrs28931594
Varsomers28931594
Maprs28931594
PheGenIrs28931594
hapmaprs28931594
1000 genomesrs28931594
hgdprs28931594
ensemblrs28931594
gopubmedrs28931594
geneviewrs28931594
scholarrs28931594
googlers28931594
pharmgkbrs28931594
gwascentralrs28931594
openSNPrs28931594
23andMers28931594
23andMe allrs28931594
SNP Nexus

SNPshotrs28931594
SNPdbers28931594
MSV3drs28931594
GWAS Ctlgrs28931594
Max Magnitude6

This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.

Note that there are two variants known at this locus: c.148G>A (Asp50Asn or D50N) and c.148G>T (Asp50Tyr or D50Y). The D50N form is the one primarily discussed in OMIM and the literature, and is also the form tested by 23andMe under their "secret" name, i6011365. The D50Y form is cited in ClinVar, referencing OMIM but not actually discussed there.

OMIM121011
DescKERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
Variant0027
Relatedalso
Neighborrs28931593
Distance76
Neighborrs28929485
Distance98
OMIM121011
Desc
Variant0020
Relatedalso


ClinVar
Risk rs28931594(A,T;A,T)
Alt rs28931594(A,T;A,T)
Reference rs28931594(G;G)
Significance Pathogenic
Disease Keratitis-ichthyosis-deafness syndrome Hystrix-like ichthyosis with deafness Deafness
Variation info
Gene GJB2
CLNDBN Keratitis-ichthyosis-deafness syndrome, autosomal dominant Hystrix-like ichthyosis with deafness Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763573C>A; NC_000013.10:g.20763573C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018556.24, RCV000018546.29, RCV000018547.29, RCV000175764.1,