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rs1057519634

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519634(A;A)
Make rs1057519634(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position40001930
GeneCDK13
is asnp
is mentioned by
dbSNPrs1057519634
dbSNP (old)rs1057519634
ClinGenrs1057519634
ebirs1057519634
HLIrs1057519634
Exacrs1057519634
Gnomadrs1057519634
Varsomers1057519634
Maprs1057519634
PheGenIrs1057519634
Biobankrs1057519634
1000 genomesrs1057519634
hgdprs1057519634
ensemblrs1057519634
gopubmedrs1057519634
geneviewrs1057519634
scholarrs1057519634
googlers1057519634
pharmgkbrs1057519634
gwascentralrs1057519634
openSNPrs1057519634
23andMers1057519634
23andMe allrs1057519634
SNPshotrs1057519634
SNPdbers1057519634
MSV3drs1057519634
GWAS Ctlgrs1057519634
Max Magnitude0
ClinVar
Risk rs1057519634(A;A)
Alt rs1057519634(A;A)
Reference Rs1057519634(G;G)
Significance Pathogenic
Disease Congenital heart defects
Variation info
Gene CDK13
CLNDBN Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Reversed 0
HGVS NC_000007.13:g.40041529G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000417212.1,