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rs104894396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar


Make rs104894396(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189511
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894396
ebirs104894396
HLIrs104894396
Exacrs104894396
Varsomers104894396
Maprs104894396
PheGenIrs104894396
hapmaprs104894396
1000 genomesrs104894396
hgdprs104894396
ensemblrs104894396
gopubmedrs104894396
geneviewrs104894396
scholarrs104894396
googlers104894396
pharmgkbrs104894396
gwascentralrs104894396
openSNPrs104894396
23andMers104894396
23andMe allrs104894396
SNP Nexus

SNPshotrs104894396
SNPdbers104894396
MSV3drs104894396
GWAS Ctlgrs104894396
Max Magnitude3
OMIM121011
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894396(A;A)
Alt rs104894396(A;A)
Reference rs104894396(G;G)
Significance Pathogenic
Disease Deafness Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763650C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018525.30, RCV000146028.1, RCV000211778.1,