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rs72554634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72554634(G;G)
Make rs72554634(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position75071516
GeneABCB7
is asnp
is mentioned by
dbSNPrs72554634
ebirs72554634
HLIrs72554634
Exacrs72554634
Varsomers72554634
Maprs72554634
PheGenIrs72554634
hapmaprs72554634
1000 genomesrs72554634
hgdprs72554634
ensemblrs72554634
gopubmedrs72554634
geneviewrs72554634
scholarrs72554634
googlers72554634
pharmgkbrs72554634
gwascentralrs72554634
openSNPrs72554634
23andMers72554634
23andMe allrs72554634
SNP Nexus

SNPshotrs72554634
SNPdbers72554634
MSV3drs72554634
GWAS Ctlgrs72554634
Max Magnitude0
OMIM300135
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72554634(A,G;A,G)
Alt rs72554634(A,G;A,G)
Reference rs72554634(T;T)
Significance Pathogenic
Disease Anemia sideroblastic and spinocerebellar ataxia not provided
Variation info
Gene ABCB7
CLNDBN Anemia sideroblastic and spinocerebellar ataxia not provided
Reversed 1
HGVS NC_000023.10:g.74291351A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012330.27, RCV000197371.1,



[PMID 10196363] Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).