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rs515726147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726147(A;A)
Make rs515726147(A;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position75075593
GeneABCB7
is asnp
is mentioned by
dbSNPrs515726147
ebirs515726147
HLIrs515726147
Exacrs515726147
Varsomers515726147
Maprs515726147
PheGenIrs515726147
hapmaprs515726147
1000 genomesrs515726147
hgdprs515726147
ensemblrs515726147
gopubmedrs515726147
geneviewrs515726147
scholarrs515726147
googlers515726147
pharmgkbrs515726147
gwascentralrs515726147
openSNPrs515726147
23andMers515726147
23andMe allrs515726147
SNP Nexus

SNPshotrs515726147
SNPdbers515726147
MSV3drs515726147
GWAS Ctlgrs515726147
Max Magnitude0
ClinVar
Risk rs515726147(A;A)
Alt rs515726147(A;A)
Reference rs515726147(T;T)
Significance Pathogenic
Disease Anemia sideroblastic and spinocerebellar ataxia
Variation info
Gene ABCB7
CLNDBN Anemia sideroblastic and spinocerebellar ataxia
Reversed 0
HGVS NC_000023.10:g.74295428T>A
CLNSRC ClinVar
CLNACC RCV000114380.2,