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rs397518464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518464(A;G)
Make rs397518464(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position121447464
GeneGJA1
is asnp
is mentioned by
dbSNPrs397518464
ebirs397518464
HLIrs397518464
Exacrs397518464
Varsomers397518464
Maprs397518464
PheGenIrs397518464
hapmaprs397518464
1000 genomesrs397518464
hgdprs397518464
ensemblrs397518464
gopubmedrs397518464
geneviewrs397518464
scholarrs397518464
googlers397518464
pharmgkbrs397518464
gwascentralrs397518464
openSNPrs397518464
23andMers397518464
23andMe allrs397518464
SNP Nexus

SNPshotrs397518464
SNPdbers397518464
MSV3drs397518464
GWAS Ctlgrs397518464
Max Magnitude0
ClinVar
Risk rs397518464(G;G)
Alt rs397518464(G;G)
Reference rs397518464(A;A)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia
Reversed 0
HGVS NC_000006.11:g.121768610A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000074385.28,