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rs104893966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893966(A;C)
Make rs104893966(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position121447428
GeneGJA1
is asnp
is mentioned by
dbSNPrs104893966
ebirs104893966
HLIrs104893966
Exacrs104893966
Varsomers104893966
Maprs104893966
PheGenIrs104893966
hapmaprs104893966
1000 genomesrs104893966
hgdprs104893966
ensemblrs104893966
gopubmedrs104893966
geneviewrs104893966
scholarrs104893966
googlers104893966
pharmgkbrs104893966
gwascentralrs104893966
openSNPrs104893966
23andMers104893966
23andMe allrs104893966
SNP Nexus

SNPshotrs104893966
SNPdbers104893966
MSV3drs104893966
GWAS Ctlgrs104893966
Max Magnitude0
OMIM121014
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893966(C;C)
Alt rs104893966(C;C)
Reference rs104893966(A;A)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia
Reversed 0
HGVS NC_000006.11:g.121768574A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018515.28,