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rs137852635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852635(C;T)
Make rs137852635(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6348198
GeneSCNN1A
is asnp
is mentioned by
dbSNPrs137852635
ebirs137852635
HLIrs137852635
Exacrs137852635
Varsomers137852635
Maprs137852635
PheGenIrs137852635
hapmaprs137852635
1000 genomesrs137852635
hgdprs137852635
ensemblrs137852635
gopubmedrs137852635
geneviewrs137852635
scholarrs137852635
googlers137852635
pharmgkbrs137852635
gwascentralrs137852635
openSNPrs137852635
23andMers137852635
23andMe allrs137852635
SNP Nexus

SNPshotrs137852635
SNPdbers137852635
MSV3drs137852635
GWAS Ctlgrs137852635
Max Magnitude0
OMIM600228
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852635(T;T)
Alt rs137852635(T;T)
Reference rs137852635(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.6457364G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009849.4,