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rs28941780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28941780(A;A)
Make rs28941780(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position9937624
GeneCRELD1
is asnp
is mentioned by
dbSNPrs28941780
ebirs28941780
HLIrs28941780
Exacrs28941780
Varsomers28941780
Maprs28941780
PheGenIrs28941780
hapmaprs28941780
1000 genomesrs28941780
hgdprs28941780
ensemblrs28941780
gopubmedrs28941780
geneviewrs28941780
scholarrs28941780
googlers28941780
pharmgkbrs28941780
gwascentralrs28941780
openSNPrs28941780
23andMers28941780
23andMe allrs28941780
SNP Nexus

SNPshotrs28941780
SNPdbers28941780
MSV3drs28941780
GWAS Ctlgrs28941780
GMAF0.0004591
Max Magnitude0
OMIM607170
DescATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME
Variant0003
Relatedalso
ClinVar
Risk rs28941780(A;A)
Alt rs28941780(A;A)
Reference rs28941780(G;G)
Significance Pathogenic
Disease Atrioventricular septal defect
Variation info
Gene CRELD1
CLNDBN Atrioventricular septal defect, partial, with heterotaxy syndrome
Reversed 0
HGVS NC_000003.11:g.9979308G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003598.3,