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rs74315285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315285(C;T)
Make rs74315285(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position54999208
GeneBSND
is asnp
is mentioned by
dbSNPrs74315285
ebirs74315285
HLIrs74315285
Exacrs74315285
Varsomers74315285
Maprs74315285
PheGenIrs74315285
hapmaprs74315285
1000 genomesrs74315285
hgdprs74315285
ensemblrs74315285
gopubmedrs74315285
geneviewrs74315285
scholarrs74315285
googlers74315285
pharmgkbrs74315285
gwascentralrs74315285
openSNPrs74315285
23andMers74315285
23andMe allrs74315285
SNP Nexus

SNPshotrs74315285
SNPdbers74315285
MSV3drs74315285
GWAS Ctlgrs74315285
GMAF0.0004591
Max Magnitude0
OMIM606412
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315285(T;T)
Alt rs74315285(T;T)
Reference rs74315285(C;C)
Significance Pathogenic
Disease Bartter syndrome type 4
Variation info
Gene BSND
CLNDBN Bartter syndrome type 4
Reversed 0
HGVS NC_000001.10:g.55464881C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004631.3,