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rs137852706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852706(A;A)
Make rs137852706(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23348708
GeneSCNN1B
is asnp
is mentioned by
dbSNPrs137852706
dbSNP (classic)rs137852706
ClinGenrs137852706
ebirs137852706
HLIrs137852706
Exacrs137852706
Gnomadrs137852706
Varsomers137852706
LitVarrs137852706
Maprs137852706
PheGenIrs137852706
Biobankrs137852706
1000 genomesrs137852706
hgdprs137852706
ensemblrs137852706
geneviewrs137852706
scholarrs137852706
googlers137852706
pharmgkbrs137852706
gwascentralrs137852706
openSNPrs137852706
23andMers137852706
SNPshotrs137852706
SNPdbers137852706
MSV3drs137852706
GWAS Ctlgrs137852706
Max Magnitude0
OMIM600760
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852706(A;A)
Alt rs137852706(A;A)
Reference Rs137852706(G;G)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 1 autosomal recessive
Variation info
Gene SCNN1B
CLNDBN Pseudohypoaldosteronism type 1 autosomal recessive
Reversed 0
HGVS NC_000016.9:g.23360029G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009380.3,