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rs199505265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199505265(A;A)
Make rs199505265(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position10646998
GeneJAG1
is asnp
is mentioned by
dbSNPrs199505265
dbSNP (classic)rs199505265
ClinGenrs199505265
ebirs199505265
HLIrs199505265
Exacrs199505265
Gnomadrs199505265
Varsomers199505265
LitVarrs199505265
Maprs199505265
PheGenIrs199505265
Biobankrs199505265
1000 genomesrs199505265
hgdprs199505265
ensemblrs199505265
geneviewrs199505265
scholarrs199505265
googlers199505265
pharmgkbrs199505265
gwascentralrs199505265
openSNPrs199505265
23andMers199505265
SNPshotrs199505265
SNPdbers199505265
MSV3drs199505265
GWAS Ctlgrs199505265
Max Magnitude0
ClinVar
Risk rs199505265(A;A)
Alt rs199505265(A;A)
Reference Rs199505265(G;G)
Significance Probable-Pathogenic
Disease not provided Isolated Nonsyndromic Congenital Heart Disease Arteriohepatic dysplasia
Variation info
Gene JAG1
CLNDBN not provided Isolated Nonsyndromic Congenital Heart Disease Arteriohepatic dysplasia
Reversed 0
HGVS NC_000020.10:g.10627646G>A
CLNSRC
CLNACC RCV000197189.2, RCV000351515.1, RCV000390881.1,