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rs80356713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356713(G;T)
Make rs80356713(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position75070499
GeneABCB7
is asnp
is mentioned by
dbSNPrs80356713
ebirs80356713
HLIrs80356713
Exacrs80356713
Varsomers80356713
Maprs80356713
PheGenIrs80356713
hapmaprs80356713
1000 genomesrs80356713
hgdprs80356713
ensemblrs80356713
gopubmedrs80356713
geneviewrs80356713
scholarrs80356713
googlers80356713
pharmgkbrs80356713
gwascentralrs80356713
openSNPrs80356713
23andMers80356713
23andMe allrs80356713
SNP Nexus

SNPshotrs80356713
SNPdbers80356713
MSV3drs80356713
GWAS Ctlgrs80356713
Max Magnitude0
OMIM300135
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356713(C,T;C,T)
Alt rs80356713(C,T;C,T)
Reference rs80356713(G;G)
Significance Pathogenic
Disease Anemia sideroblastic and spinocerebellar ataxia
Variation info
Gene ABCB7
CLNDBN Anemia sideroblastic and spinocerebellar ataxia
Reversed 1
HGVS NC_000023.10:g.74290334C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012332.24,


[PMID 11843825] X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.