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rs387906565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906565(A;A)
Make rs387906565(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44262928
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs387906565
dbSNP (classic)rs387906565
ClinGenrs387906565
ebirs387906565
HLIrs387906565
Exacrs387906565
Gnomadrs387906565
Varsomers387906565
LitVarrs387906565
Maprs387906565
PheGenIrs387906565
Biobankrs387906565
1000 genomesrs387906565
hgdprs387906565
ensemblrs387906565
geneviewrs387906565
scholarrs387906565
googlers387906565
pharmgkbrs387906565
gwascentralrs387906565
openSNPrs387906565
23andMers387906565
SNPshotrs387906565
SNPdbers387906565
MSV3drs387906565
GWAS Ctlgrs387906565
Max Magnitude0
ClinVar
Risk rs387906565(A;A)
Alt rs387906565(A;A)
Reference Rs387906565(G;G)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42340296C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019331.27,