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rs80356714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356714(A;A)
Make rs80356714(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position75070433
GeneABCB7
is asnp
is mentioned by
dbSNPrs80356714
ebirs80356714
HLIrs80356714
Exacrs80356714
Varsomers80356714
Maprs80356714
PheGenIrs80356714
hapmaprs80356714
1000 genomesrs80356714
hgdprs80356714
ensemblrs80356714
gopubmedrs80356714
geneviewrs80356714
scholarrs80356714
googlers80356714
pharmgkbrs80356714
gwascentralrs80356714
openSNPrs80356714
23andMers80356714
23andMe allrs80356714
SNP Nexus

SNPshotrs80356714
SNPdbers80356714
MSV3drs80356714
GWAS Ctlgrs80356714
Max Magnitude0
OMIM300135
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356714(A;A)
Alt rs80356714(A;A)
Reference rs80356714(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.74290268C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012331.24,


[PMID 11050011] Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.