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rs104894416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894416(A;A)
Make rs104894416(A;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20223371
GeneGJB6
is asnp
is mentioned by
dbSNPrs104894416
ebirs104894416
HLIrs104894416
Exacrs104894416
Varsomers104894416
Maprs104894416
PheGenIrs104894416
hapmaprs104894416
1000 genomesrs104894416
hgdprs104894416
ensemblrs104894416
gopubmedrs104894416
geneviewrs104894416
scholarrs104894416
googlers104894416
pharmgkbrs104894416
gwascentralrs104894416
openSNPrs104894416
23andMers104894416
23andMe allrs104894416
SNP Nexus

SNPshotrs104894416
SNPdbers104894416
MSV3drs104894416
GWAS Ctlgrs104894416
Max Magnitude0
OMIM604418
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894416(A;A)
Alt rs104894416(A;A)
Reference rs104894416(T;T)
Significance Pathogenic
Disease Hidrotic ectodermal dysplasia syndrome
Variation info
Gene GJB6
CLNDBN Hidrotic ectodermal dysplasia syndrome
Reversed 1
HGVS NC_000013.10:g.20797510A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005886.3,