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rs121912759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912759(C;T)
Make rs121912759(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position44251211
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912759
ebirs121912759
HLIrs121912759
Exacrs121912759
Varsomers121912759
Maprs121912759
PheGenIrs121912759
hapmaprs121912759
1000 genomesrs121912759
hgdprs121912759
ensemblrs121912759
gopubmedrs121912759
geneviewrs121912759
scholarrs121912759
googlers121912759
pharmgkbrs121912759
gwascentralrs121912759
openSNPrs121912759
23andMers121912759
23andMe allrs121912759
SNP Nexus

SNPshotrs121912759
SNPdbers121912759
MSV3drs121912759
GWAS Ctlgrs121912759
Max Magnitude0
OMIM109270
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121912759(T;T)
Alt rs121912759(T;T)
Reference Rs121912759(C;C)
Significance Pathogenic
Disease Acanthocytosis due to band 3 ht
Variation info
Gene SLC4A1
CLNDBN Acanthocytosis due to band 3 ht
Reversed 1
HGVS NC_000017.10:g.42328579G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019361.23,