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rs74315286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315286(A;A)
Make rs74315286(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position54999189
GeneBSND
is asnp
is mentioned by
dbSNPrs74315286
dbSNP (classic)rs74315286
ClinGenrs74315286
ebirs74315286
HLIrs74315286
Exacrs74315286
Gnomadrs74315286
Varsomers74315286
LitVarrs74315286
Maprs74315286
PheGenIrs74315286
Biobankrs74315286
1000 genomesrs74315286
hgdprs74315286
ensemblrs74315286
geneviewrs74315286
scholarrs74315286
googlers74315286
pharmgkbrs74315286
gwascentralrs74315286
openSNPrs74315286
23andMers74315286
SNPshotrs74315286
SNPdbers74315286
MSV3drs74315286
GWAS Ctlgrs74315286
Max Magnitude0
OMIM606412
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315286(A;A)
Alt rs74315286(A;A)
Reference Rs74315286(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.55464862G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004634.3,