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rs28931584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28931584(A;A)
Make rs28931584(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44257514
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs28931584
ebirs28931584
HLIrs28931584
Exacrs28931584
Varsomers28931584
Maprs28931584
PheGenIrs28931584
hapmaprs28931584
1000 genomesrs28931584
hgdprs28931584
ensemblrs28931584
gopubmedrs28931584
geneviewrs28931584
scholarrs28931584
googlers28931584
pharmgkbrs28931584
gwascentralrs28931584
openSNPrs28931584
23andMers28931584
23andMe allrs28931584
SNP Nexus

SNPshotrs28931584
SNPdbers28931584
MSV3drs28931584
GWAS Ctlgrs28931584
Max Magnitude0
OMIM109270
DescSPHEROCYTOSIS, HEREDITARY
Variant0022
Relatedalso


ClinVar
Risk rs28931584(A;A)
Alt rs28931584(A;A)
Reference rs28931584(G;G)
Significance Pathogenic
Disease Spherocytosis type 4 Renal tubular acidosis
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4 Renal tubular acidosis, distal, with hemolytic anemia
Reversed 1
HGVS NC_000017.10:g.42334882C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019350.29, RCV000019351.25,