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rs398123007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123007(A;A)
Make rs398123007(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position125032239
GeneKIAA0196
is asnp
is mentioned by
dbSNPrs398123007
ebirs398123007
HLIrs398123007
Exacrs398123007
Varsomers398123007
Maprs398123007
PheGenIrs398123007
hapmaprs398123007
1000 genomesrs398123007
hgdprs398123007
ensemblrs398123007
gopubmedrs398123007
geneviewrs398123007
scholarrs398123007
googlers398123007
pharmgkbrs398123007
gwascentralrs398123007
openSNPrs398123007
23andMers398123007
23andMe allrs398123007
SNP Nexus

SNPshotrs398123007
SNPdbers398123007
MSV3drs398123007
GWAS Ctlgrs398123007
Max Magnitude0
ClinVar
Risk rs398123007(A;A)
Alt rs398123007(A;A)
Reference rs398123007(T;T)
Significance Pathogenic
Disease Dandy-Walker like malformation with atrioventricular septal defect
Variation info
Gene KIAA0196
CLNDBN Dandy-Walker like malformation with atrioventricular septal defect
Reversed 1
HGVS NC_000008.10:g.126044481A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000077794.3,