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rs1057519635

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519635(A;A)
Make rs1057519635(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position29626508
GenePRKD1
is asnp
is mentioned by
dbSNPrs1057519635
dbSNP (old)rs1057519635
ClinGenrs1057519635
ebirs1057519635
HLIrs1057519635
Exacrs1057519635
Gnomadrs1057519635
Varsomers1057519635
Maprs1057519635
PheGenIrs1057519635
Biobankrs1057519635
1000 genomesrs1057519635
hgdprs1057519635
ensemblrs1057519635
gopubmedrs1057519635
geneviewrs1057519635
scholarrs1057519635
googlers1057519635
pharmgkbrs1057519635
gwascentralrs1057519635
openSNPrs1057519635
23andMers1057519635
23andMe allrs1057519635
SNPshotrs1057519635
SNPdbers1057519635
MSV3drs1057519635
GWAS Ctlgrs1057519635
Max Magnitude0
ClinVar
Risk rs1057519635(A;A)
Alt rs1057519635(A;A)
Reference Rs1057519635(G;G)
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.30095714C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000417214.1,