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rs74315288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315288(G;T)
Make rs74315288(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position54999209
GeneBSND
is asnp
is mentioned by
dbSNPrs74315288
dbSNP (classic)rs74315288
ClinGenrs74315288
ebirs74315288
HLIrs74315288
Exacrs74315288
Gnomadrs74315288
Varsomers74315288
LitVarrs74315288
Maprs74315288
PheGenIrs74315288
Biobankrs74315288
1000 genomesrs74315288
hgdprs74315288
ensemblrs74315288
geneviewrs74315288
scholarrs74315288
googlers74315288
pharmgkbrs74315288
gwascentralrs74315288
openSNPrs74315288
23andMers74315288
SNPshotrs74315288
SNPdbers74315288
MSV3drs74315288
GWAS Ctlgrs74315288
Max Magnitude0
OMIM606412
Desc
Variant0007
Relatedalso
ClinVar
Risk rs74315288(A;A) rs74315288(T;T)
Alt rs74315288(A;A) rs74315288(T;T)
Reference Rs74315288(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.55464882G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004636.3,