rs1057519636

Orientation

minus

Stabilized

minus

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

Make rs1057519636(G;G)

Make rs1057519636(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

29638705

Gene

PRKD1

is a	snp
is	mentioned by
dbSNP	rs1057519636
dbSNP (classic)	rs1057519636
ClinGen	rs1057519636
ebi	rs1057519636
HLI	rs1057519636
Exac	rs1057519636
Gnomad	rs1057519636
Varsome	rs1057519636
LitVar	rs1057519636
Map	rs1057519636
PheGenI	rs1057519636
Biobank	rs1057519636
1000 genomes	rs1057519636
hgdp	rs1057519636
ensembl	rs1057519636
geneview	rs1057519636
scholar	rs1057519636
google	rs1057519636
pharmgkb	rs1057519636
gwascentral	rs1057519636
openSNP	rs1057519636
23andMe	rs1057519636
SNPshot	rs1057519636
SNPdbe	rs1057519636
MSV3d	rs1057519636
GWAS Ctlg	rs1057519636

Max Magnitude

0

ClinVar
Risk	rs1057519636(G;G)
Alt	rs1057519636(G;G)
Reference	Rs1057519636(T;T)
Significance	Pathogenic
Disease	Congenital heart defects and ectodermal dysplasia
Variation	info
Gene	PRKD1
CLNDBN	Congenital heart defects and ectodermal dysplasia
Reversed	1
HGVS	NC_000014.8:g.30107911A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417210.1,