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rs199469657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGGTAA;AGGTAA) 0 common in clinvar
Make rs199469657(-;-)
Make rs199469657(-;AGGTAA)
ReferenceGRCh38 38.1/141
Chromosome2
Position224503648
GeneCUL3
is asnp
is mentioned by
dbSNPrs199469657
dbSNP (classic)rs199469657
ClinGenrs199469657
ebirs199469657
HLIrs199469657
Exacrs199469657
Gnomadrs199469657
Varsomers199469657
LitVarrs199469657
Maprs199469657
PheGenIrs199469657
Biobankrs199469657
1000 genomesrs199469657
hgdprs199469657
ensemblrs199469657
geneviewrs199469657
scholarrs199469657
googlers199469657
pharmgkbrs199469657
gwascentralrs199469657
openSNPrs199469657
23andMers199469657
SNPshotrs199469657
SNPdbers199469657
MSV3drs199469657
GWAS Ctlgrs199469657
Max Magnitude0
ClinVar
Risk rs199469657(-;-)
Alt rs199469657(-;-)
Reference Rs199469657(AGGTAA;AGGTAA)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene CUL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000002.11:g.225368365_225368370delTTACCT
CLNSRC ClinVar
CLNACC RCV000128495.1,