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rs1057519633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519633(C;C)
Make rs1057519633(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position39999458
GeneCDK13
is asnp
is mentioned by
dbSNPrs1057519633
dbSNP (classic)rs1057519633
ClinGenrs1057519633
ebirs1057519633
HLIrs1057519633
Exacrs1057519633
Gnomadrs1057519633
Varsomers1057519633
LitVarrs1057519633
Maprs1057519633
PheGenIrs1057519633
Biobankrs1057519633
1000 genomesrs1057519633
hgdprs1057519633
ensemblrs1057519633
geneviewrs1057519633
scholarrs1057519633
googlers1057519633
pharmgkbrs1057519633
gwascentralrs1057519633
openSNPrs1057519633
23andMers1057519633
23andMe allrs1057519633
SNPshotrs1057519633
SNPdbers1057519633
MSV3drs1057519633
GWAS Ctlgrs1057519633
Max Magnitude0
ClinVar
Risk rs1057519633(C;C)
Alt rs1057519633(C;C)
Reference Rs1057519633(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.40039057G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000417209.1,