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rs72561723

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
ReferenceGRCh38 38.1/141
Chromosome13
Position20189448
GeneGJB2
is asnp
is mentioned by
dbSNPrs72561723
ebirs72561723
HLIrs72561723
Exacrs72561723
Varsomers72561723
Maprs72561723
PheGenIrs72561723
hapmaprs72561723
1000 genomesrs72561723
hgdprs72561723
ensemblrs72561723
gopubmedrs72561723
geneviewrs72561723
scholarrs72561723
googlers72561723
pharmgkbrs72561723
gwascentralrs72561723
openSNPrs72561723
23andMers72561723
23andMe allrs72561723
SNP Nexus

SNPshotrs72561723
SNPdbers72561723
MSV3drs72561723
GWAS Ctlgrs72561723
Max Magnitude6

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

OMIM121011
Desc
Variant0033
Relatedalso


ClinVar
Risk rs72561723(A;A)
Alt rs72561723(A;A)
Reference rs72561723(G;G)
Significance Other
Disease Keratitis-ichthyosis-deafness syndrome Deafness
Variation info
Gene GJB2
CLNDBN Keratitis-ichthyosis-deafness syndrome, autosomal dominant Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763587C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018561.29, RCV000022510.31,