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rs730882205

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882205(A;C)
Make rs730882205(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position42224882
GeneZNF526
is asnp
is mentioned by
dbSNPrs730882205
ebirs730882205
HLIrs730882205
Exacrs730882205
Varsomers730882205
Maprs730882205
PheGenIrs730882205
hapmaprs730882205
1000 genomesrs730882205
hgdprs730882205
ensemblrs730882205
gopubmedrs730882205
geneviewrs730882205
scholarrs730882205
googlers730882205
pharmgkbrs730882205
gwascentralrs730882205
openSNPrs730882205
23andMers730882205
23andMe allrs730882205
SNP Nexus

SNPshotrs730882205
SNPdbers730882205
MSV3drs730882205
GWAS Ctlgrs730882205
Max Magnitude0
ClinVar
Risk rs730882205(C;C)
Alt rs730882205(C;C)
Reference rs730882205(A;A)
Significance Probable-Pathogenic
Disease Intellectual disability Noonan-like facies Pulmonic stenosis not provided
Variation info
Gene ZNF526
CLNDBN Intellectual disability Noonan-like facies Pulmonic stenosis not provided
Reversed 0
HGVS NC_000019.9:g.42729034A>C
CLNSRC
CLNACC RCV000162109.1, RCV000171284.1,