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rs28931585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28931585(C;T)
Make rs28931585(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44251206
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs28931585
ebirs28931585
HLIrs28931585
Exacrs28931585
Varsomers28931585
Maprs28931585
PheGenIrs28931585
hapmaprs28931585
1000 genomesrs28931585
hgdprs28931585
ensemblrs28931585
gopubmedrs28931585
geneviewrs28931585
scholarrs28931585
googlers28931585
pharmgkbrs28931585
gwascentralrs28931585
openSNPrs28931585
23andMers28931585
23andMe allrs28931585
SNP Nexus

SNPshotrs28931585
SNPdbers28931585
MSV3drs28931585
GWAS Ctlgrs28931585
Max Magnitude0
OMIM109270
DescSPHEROCYTOSIS, HEREDITARY, DUE TO BAND 3 PRAGUE III
Variant0024
Relatedalso
Neighborrs2285644
Distance47


ClinVar
Risk rs28931585(T;T)
Alt rs28931585(T;T)
Reference rs28931585(C;C)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42328574G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019354.29,