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rs2227885

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(T;T) 0
Make rs2227885(A;A)
Make rs2227885(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position121447932
GeneGJA1
is asnp
is mentioned by
dbSNPrs2227885
ebirs2227885
HLIrs2227885
Exacrs2227885
Varsomers2227885
Maprs2227885
PheGenIrs2227885
hapmaprs2227885
1000 genomesrs2227885
hgdprs2227885
ensemblrs2227885
gopubmedrs2227885
geneviewrs2227885
scholarrs2227885
googlers2227885
pharmgkbrs2227885
gwascentralrs2227885
openSNPrs2227885
23andMers2227885
23andMe allrs2227885
SNP Nexus

SNPshotrs2227885
SNPdbers2227885
MSV3drs2227885
GWAS Ctlgrs2227885
Max Magnitude0
OMIM121014
Desc
Variant0011
Relatedalso
ClinVar
Risk rs2227885(A;A)
Alt rs2227885(A;A)
Reference rs2227885(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.121769078G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018511.28, RCV000018512.28,


GET Evidence
GJA1-R362Q
aa_change Arg362Gln
aa_change_short R362Q
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00793651
summary