Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894403

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894403(C;C)
Make rs104894403(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189386
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894403
ebirs104894403
HLIrs104894403
Exacrs104894403
Varsomers104894403
Maprs104894403
PheGenIrs104894403
hapmaprs104894403
1000 genomesrs104894403
hgdprs104894403
ensemblrs104894403
gopubmedrs104894403
geneviewrs104894403
scholarrs104894403
googlers104894403
pharmgkbrs104894403
gwascentralrs104894403
openSNPrs104894403
23andMers104894403
23andMe allrs104894403
SNP Nexus

SNPshotrs104894403
SNPdbers104894403
MSV3drs104894403
GWAS Ctlgrs104894403
Max Magnitude0
OMIM121011
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894403(C;C)
Alt rs104894403(C;C)
Reference rs104894403(G;G)
Significance Pathogenic
Disease Mutilating keratoderma
Variation info
Gene GJB2
CLNDBN Mutilating keratoderma
Reversed 1
HGVS NC_000013.10:g.20763525C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018536.30,