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rs104894415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894415(A;A)
Make rs104894415(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20223450
GeneGJB6
is asnp
is mentioned by
dbSNPrs104894415
ebirs104894415
HLIrs104894415
Exacrs104894415
Varsomers104894415
Maprs104894415
PheGenIrs104894415
hapmaprs104894415
1000 genomesrs104894415
hgdprs104894415
ensemblrs104894415
gopubmedrs104894415
geneviewrs104894415
scholarrs104894415
googlers104894415
pharmgkbrs104894415
gwascentralrs104894415
openSNPrs104894415
23andMers104894415
23andMe allrs104894415
SNP Nexus

SNPshotrs104894415
SNPdbers104894415
MSV3drs104894415
GWAS Ctlgrs104894415
Max Magnitude0
OMIM604418
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894415(A;A)
Alt rs104894415(A;A)
Reference rs104894415(G;G)
Significance Pathogenic
Disease Hidrotic ectodermal dysplasia syndrome Deafness
Variation info
Gene GJB6
CLNDBN Hidrotic ectodermal dysplasia syndrome Deafness, autosomal recessive 1b
Reversed 1
HGVS NC_000013.10:g.20797589C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005882.2, RCV000168673.1,