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rs28931583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28931583(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44258520
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs28931583
ebirs28931583
HLIrs28931583
Exacrs28931583
Varsomers28931583
Maprs28931583
PheGenIrs28931583
hapmaprs28931583
1000 genomesrs28931583
hgdprs28931583
ensemblrs28931583
gopubmedrs28931583
geneviewrs28931583
scholarrs28931583
googlers28931583
pharmgkbrs28931583
gwascentralrs28931583
openSNPrs28931583
23andMers28931583
23andMe allrs28931583
SNP Nexus

SNPshotrs28931583
SNPdbers28931583
MSV3drs28931583
GWAS Ctlgrs28931583
GMAF0.0004591
Max Magnitude0
OMIM109270
DescSPHEROCYTOSIS, HEREDITARY, DUE TO BAND 3 TUSCALOOSA
Variant0003
Relatedalso


ClinVar
Risk rs28931583(G;G)
Alt rs28931583(G;G)
Reference rs28931583(C;C)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42335888G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019332.28,