rs515726147

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs515726147(A;A)

Make rs515726147(A;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

75075593

Gene

ABCB7

is a	snp
is	mentioned by
dbSNP	rs515726147
dbSNP (classic)	rs515726147
ClinGen	rs515726147
ebi	rs515726147
HLI	rs515726147
Exac	rs515726147
Gnomad	rs515726147
Varsome	rs515726147
LitVar	rs515726147
Map	rs515726147
PheGenI	rs515726147
Biobank	rs515726147
1000 genomes	rs515726147
hgdp	rs515726147
ensembl	rs515726147
geneview	rs515726147
scholar	rs515726147
google	rs515726147
pharmgkb	rs515726147
gwascentral	rs515726147
openSNP	rs515726147
23andMe	rs515726147
SNPshot	rs515726147
SNPdbe	rs515726147
MSV3d	rs515726147
GWAS Ctlg	rs515726147

Max Magnitude

0

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,