rs80356713

Orientation

minus

Stabilized

minus

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

Make rs80356713(G;T)

Make rs80356713(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

75070499

Gene

ABCB7

is a	snp
is	mentioned by
dbSNP	rs80356713
dbSNP (classic)	rs80356713
ClinGen	rs80356713
ebi	rs80356713
HLI	rs80356713
Exac	rs80356713
Gnomad	rs80356713
Varsome	rs80356713
LitVar	rs80356713
Map	rs80356713
PheGenI	rs80356713
Biobank	rs80356713
1000 genomes	rs80356713
hgdp	rs80356713
ensembl	rs80356713
geneview	rs80356713
scholar	rs80356713
google	rs80356713
pharmgkb	rs80356713
gwascentral	rs80356713
openSNP	rs80356713
23andMe	rs80356713
SNPshot	rs80356713
SNPdbe	rs80356713
MSV3d	rs80356713
GWAS Ctlg	rs80356713

Max Magnitude

0

OMIM	300135
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80356713(C;C) rs80356713(T;T)
Alt	rs80356713(C;C) rs80356713(T;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.