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rs28942092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28942092(C;T)
Make rs28942092(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position9943399
GeneCRELD1
is asnp
is mentioned by
dbSNPrs28942092
dbSNP (classic)rs28942092
ClinGenrs28942092
ebirs28942092
HLIrs28942092
Exacrs28942092
Gnomadrs28942092
Varsomers28942092
LitVarrs28942092
Maprs28942092
PheGenIrs28942092
Biobankrs28942092
1000 genomesrs28942092
hgdprs28942092
ensemblrs28942092
geneviewrs28942092
scholarrs28942092
googlers28942092
pharmgkbrs28942092
gwascentralrs28942092
openSNPrs28942092
23andMers28942092
SNPshotrs28942092
SNPdbers28942092
MSV3drs28942092
GWAS Ctlgrs28942092
GMAF0.0004591
Max Magnitude0
OMIM607170
DescATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
Variant0002
Relatedalso


ClinVar
Risk rs28942092(T;T)
Alt rs28942092(T;T)
Reference Rs28942092(C;C)
Significance Other
Disease Atrioventricular septal defect 2
Variation info
Gene CRELD1
CLNDBN Atrioventricular septal defect 2
Reversed 0
HGVS NC_000003.11:g.9985083C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003597.2,