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rs56361140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs56361140(C;T)
Make rs56361140(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44260441
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs56361140
dbSNP (classic)rs56361140
ClinGenrs56361140
ebirs56361140
HLIrs56361140
Exacrs56361140
Gnomadrs56361140
Varsomers56361140
LitVarrs56361140
Maprs56361140
PheGenIrs56361140
Biobankrs56361140
1000 genomesrs56361140
hgdprs56361140
ensemblrs56361140
geneviewrs56361140
scholarrs56361140
googlers56361140
pharmgkbrs56361140
gwascentralrs56361140
openSNPrs56361140
23andMers56361140
SNPshotrs56361140
SNPdbers56361140
MSV3drs56361140
GWAS Ctlgrs56361140
GMAF0.0004591
Max Magnitude0
OMIM109270
Desc
Variant0009
Relatedalso


ClinVar
Risk rs56361140(A;A) rs56361140(G;G) rs56361140(T;T)
Alt rs56361140(A;A) rs56361140(G;G) rs56361140(T;T)
Reference Rs56361140(C;C)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42337809G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019339.29,