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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
ebirs45562031
HLIrs45562031
Exacrs45562031
Varsomers45562031
Maprs45562031
PheGenIrs45562031
hapmaprs45562031
1000 genomesrs45562031
hgdprs45562031
ensemblrs45562031
gopubmedrs45562031
geneviewrs45562031
scholarrs45562031
googlers45562031
pharmgkbrs45562031
gwascentralrs45562031
openSNPrs45562031
23andMers45562031
23andMe allrs45562031
SNP Nexus

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
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 0
HGVS NC_000017.10:g.42338993C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019333.28,



GET Evidence
SLC4A1-E40K
aa_change Glu40Lys
aa_change_short E40K
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0118052
summary Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect.