rs1057519632

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057519632(A;A)

Make rs1057519632(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

39999467

Gene

CDK13

is a	snp
is	mentioned by
dbSNP	rs1057519632
dbSNP (classic)	rs1057519632
ClinGen	rs1057519632
ebi	rs1057519632
HLI	rs1057519632
Exac	rs1057519632
Gnomad	rs1057519632
Varsome	rs1057519632
LitVar	rs1057519632
Map	rs1057519632
PheGenI	rs1057519632
Biobank	rs1057519632
1000 genomes	rs1057519632
hgdp	rs1057519632
ensembl	rs1057519632
geneview	rs1057519632
scholar	rs1057519632
google	rs1057519632
pharmgkb	rs1057519632
gwascentral	rs1057519632
openSNP	rs1057519632
23andMe	rs1057519632
SNPshot	rs1057519632
SNPdbe	rs1057519632
MSV3d	rs1057519632
GWAS Ctlg	rs1057519632

Max Magnitude

0

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,