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rs74315289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315289(A;A)
Make rs74315289(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position54999325
GeneBSND
is asnp
is mentioned by
dbSNPrs74315289
dbSNP (classic)rs74315289
ClinGenrs74315289
ebirs74315289
HLIrs74315289
Exacrs74315289
Gnomadrs74315289
Varsomers74315289
LitVarrs74315289
Maprs74315289
PheGenIrs74315289
Biobankrs74315289
1000 genomesrs74315289
hgdprs74315289
ensemblrs74315289
geneviewrs74315289
scholarrs74315289
googlers74315289
pharmgkbrs74315289
gwascentralrs74315289
openSNPrs74315289
23andMers74315289
SNPshotrs74315289
SNPdbers74315289
MSV3drs74315289
GWAS Ctlgrs74315289
Max Magnitude0
OMIM606412
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315289(A;A)
Alt rs74315289(A;A)
Reference Rs74315289(G;G)
Significance Pathogenic
Disease Bartter syndrome type 4
Variation info
Gene BSND
CLNDBN Bartter syndrome type 4
Reversed 0
HGVS NC_000001.10:g.55464998G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004637.4,