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rs74315284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315284(A;T)
Make rs74315284(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position54999187
GeneBSND
is asnp
is mentioned by
dbSNPrs74315284
dbSNP (classic)rs74315284
ClinGenrs74315284
ebirs74315284
HLIrs74315284
Exacrs74315284
Gnomadrs74315284
Varsomers74315284
LitVarrs74315284
Maprs74315284
PheGenIrs74315284
Biobankrs74315284
1000 genomesrs74315284
hgdprs74315284
ensemblrs74315284
geneviewrs74315284
scholarrs74315284
googlers74315284
pharmgkbrs74315284
gwascentralrs74315284
openSNPrs74315284
23andMers74315284
SNPshotrs74315284
SNPdbers74315284
MSV3drs74315284
GWAS Ctlgrs74315284
Max Magnitude0
OMIM606412
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315284(T;T)
Alt rs74315284(T;T)
Reference Rs74315284(A;A)
Significance Pathogenic
Disease Bartter syndrome type 4
Variation info
Gene BSND
CLNDBN Bartter syndrome type 4
Reversed 0
HGVS NC_000001.10:g.55464860A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004630.3,