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rs1057519636

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519636(G;G)
Make rs1057519636(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position29638705
GenePRKD1
is asnp
is mentioned by
dbSNPrs1057519636
dbSNP (old)rs1057519636
ClinGenrs1057519636
ebirs1057519636
HLIrs1057519636
Exacrs1057519636
Gnomadrs1057519636
Varsomers1057519636
Maprs1057519636
PheGenIrs1057519636
Biobankrs1057519636
1000 genomesrs1057519636
hgdprs1057519636
ensemblrs1057519636
gopubmedrs1057519636
geneviewrs1057519636
scholarrs1057519636
googlers1057519636
pharmgkbrs1057519636
gwascentralrs1057519636
openSNPrs1057519636
23andMers1057519636
23andMe allrs1057519636
SNPshotrs1057519636
SNPdbers1057519636
MSV3drs1057519636
GWAS Ctlgrs1057519636
Max Magnitude0
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,