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rs1057519632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519632(A;A)
Make rs1057519632(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position39999467
GeneCDK13
is asnp
is mentioned by
dbSNPrs1057519632
dbSNP (classic)rs1057519632
ClinGenrs1057519632
ebirs1057519632
HLIrs1057519632
Exacrs1057519632
Gnomadrs1057519632
Varsomers1057519632
LitVarrs1057519632
Maprs1057519632
PheGenIrs1057519632
Biobankrs1057519632
1000 genomesrs1057519632
hgdprs1057519632
ensemblrs1057519632
geneviewrs1057519632
scholarrs1057519632
googlers1057519632
pharmgkbrs1057519632
gwascentralrs1057519632
openSNPrs1057519632
23andMers1057519632
23andMe allrs1057519632
SNPshotrs1057519632
SNPdbers1057519632
MSV3drs1057519632
GWAS Ctlgrs1057519632
Max Magnitude0
ClinVar
Risk rs1057519632(A;A)
Alt rs1057519632(A;A)
Reference Rs1057519632(G;G)
Significance Pathogenic
Disease Congenital heart defects not provided
Variation info
Gene CDK13
CLNDBN Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder not provided
Reversed 0
HGVS NC_000007.13:g.40039066G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000417213.1, RCV000489190.1,