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rs104893965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893965(A;A)
Make rs104893965(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position121447974
GeneGJA1
is asnp
is mentioned by
dbSNPrs104893965
ebirs104893965
HLIrs104893965
Exacrs104893965
Varsomers104893965
Maprs104893965
PheGenIrs104893965
hapmaprs104893965
1000 genomesrs104893965
hgdprs104893965
ensemblrs104893965
gopubmedrs104893965
geneviewrs104893965
scholarrs104893965
googlers104893965
pharmgkbrs104893965
gwascentralrs104893965
openSNPrs104893965
23andMers104893965
23andMe allrs104893965
SNP Nexus

SNPshotrs104893965
SNPdbers104893965
MSV3drs104893965
GWAS Ctlgrs104893965
Max Magnitude0
OMIM121014
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893965(A;A)
Alt rs104893965(A;A)
Reference rs104893965(G;G)
Significance Pathogenic
Disease Hypoplastic left heart syndrome Atrioventricular septal defect and common atrioventricular junction
Variation info
Gene GJA1
CLNDBN Hypoplastic left heart syndrome Atrioventricular septal defect and common atrioventricular junction
Reversed 0
HGVS NC_000006.11:g.121769120G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018513.29, RCV000018514.24,