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rs137852634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852634(C;T)
Make rs137852634(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6348981
GeneSCNN1A
is asnp
is mentioned by
dbSNPrs137852634
ebirs137852634
HLIrs137852634
Exacrs137852634
Varsomers137852634
Maprs137852634
PheGenIrs137852634
hapmaprs137852634
1000 genomesrs137852634
hgdprs137852634
ensemblrs137852634
gopubmedrs137852634
geneviewrs137852634
scholarrs137852634
googlers137852634
pharmgkbrs137852634
gwascentralrs137852634
openSNPrs137852634
23andMers137852634
23andMe allrs137852634
SNP Nexus

SNPshotrs137852634
SNPdbers137852634
MSV3drs137852634
GWAS Ctlgrs137852634
Max Magnitude0
OMIM600228
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852634(G,T;G,T)
Alt rs137852634(G,T;G,T)
Reference rs137852634(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 1 autosomal recessive
Variation info
Gene SCNN1A
CLNDBN Pseudohypoaldosteronism type 1 autosomal recessive
Reversed 1
HGVS NC_000012.11:g.6458147G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009846.2,