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rs28929480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28929480(A;A)
Make rs28929480(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44260716
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs28929480
ebirs28929480
HLIrs28929480
Exacrs28929480
Varsomers28929480
Maprs28929480
PheGenIrs28929480
hapmaprs28929480
1000 genomesrs28929480
hgdprs28929480
ensemblrs28929480
gopubmedrs28929480
geneviewrs28929480
scholarrs28929480
googlers28929480
pharmgkbrs28929480
gwascentralrs28929480
openSNPrs28929480
23andMers28929480
23andMe allrs28929480
SNP Nexus

SNPshotrs28929480
SNPdbers28929480
MSV3drs28929480
GWAS Ctlgrs28929480
GMAF0.0004591
Max Magnitude0
OMIM109270
DescSPHEROCYTOSIS, HEREDITARY, DUE TO BAND 3 CAPE TOWN
Variant0023
Relatedalso
Neighborrs5036
Distance861


ClinVar
Risk rs28929480(A;A)
Alt rs28929480(A;A)
Reference rs28929480(G;G)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42338084C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019353.24,