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rs104894395

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs104894395(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189352
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894395
ebirs104894395
HLIrs104894395
Exacrs104894395
Varsomers104894395
Maprs104894395
PheGenIrs104894395
hapmaprs104894395
1000 genomesrs104894395
hgdprs104894395
ensemblrs104894395
gopubmedrs104894395
geneviewrs104894395
scholarrs104894395
googlers104894395
pharmgkbrs104894395
gwascentralrs104894395
openSNPrs104894395
23andMers104894395
23andMe allrs104894395
SNP Nexus

SNPshotrs104894395
SNPdbers104894395
MSV3drs104894395
GWAS Ctlgrs104894395
Max Magnitude0
OMIM121011
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894395(A;A)
Alt rs104894395(A;A)
Reference rs104894395(G;G)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763491C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169604.1, RCV000218259.1,