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rs45562031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45562031(C;T)
Make rs45562031(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44261625
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs45562031
dbSNP (classic)rs45562031
ClinGenrs45562031
ebirs45562031
HLIrs45562031
Exacrs45562031
Gnomadrs45562031
Varsomers45562031
LitVarrs45562031
Maprs45562031
PheGenIrs45562031
Biobankrs45562031
1000 genomesrs45562031
hgdprs45562031
ensemblrs45562031
geneviewrs45562031
scholarrs45562031
googlers45562031
pharmgkbrs45562031
gwascentralrs45562031
openSNPrs45562031
23andMers45562031
SNPshotrs45562031
SNPdbers45562031
MSV3drs45562031
GWAS Ctlgrs45562031
GMAF0.007805
Max Magnitude0
OMIM109270
Desc
Variant0004
Relatedalso


ClinVar
Risk rs45562031(T;T)
Alt rs45562031(T;T)
Reference Rs45562031(C;C)
Significance Pathogenic
Disease Spherocytosis type 4 not specified Hemolytic anemia
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4 not specified Hemolytic anemia
Reversed 0
HGVS NC_000017.10:g.42338993C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019333.28, RCV000247655.1, RCV000298897.1,