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rs104893962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893962(C;C)
Make rs104893962(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position121446899
GeneGJA1
is asnp
is mentioned by
dbSNPrs104893962
ebirs104893962
HLIrs104893962
Exacrs104893962
Varsomers104893962
Maprs104893962
PheGenIrs104893962
hapmaprs104893962
1000 genomesrs104893962
hgdprs104893962
ensemblrs104893962
gopubmedrs104893962
geneviewrs104893962
scholarrs104893962
googlers104893962
pharmgkbrs104893962
gwascentralrs104893962
openSNPrs104893962
23andMers104893962
23andMe allrs104893962
SNP Nexus

SNPshotrs104893962
SNPdbers104893962
MSV3drs104893962
GWAS Ctlgrs104893962
Max Magnitude0
OMIM121014
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893962(C;C)
Alt rs104893962(C;C)
Reference rs104893962(T;T)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia
Reversed 0
HGVS NC_000006.11:g.121768045T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018504.31,