rs267606673

Orientation

plus

Stabilized

plus

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

Make rs267606673(C;T)

Make rs267606673(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

78029314

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs267606673
dbSNP (classic)	rs267606673
ClinGen	rs267606673
ebi	rs267606673
HLI	rs267606673
Exac	rs267606673
Gnomad	rs267606673
Varsome	rs267606673
LitVar	rs267606673
Map	rs267606673
PheGenI	rs267606673
Biobank	rs267606673
1000 genomes	rs267606673
hgdp	rs267606673
ensembl	rs267606673
geneview	rs267606673
scholar	rs267606673
google	rs267606673
pharmgkb	rs267606673
gwascentral	rs267606673
openSNP	rs267606673
23andMe	rs267606673
SNPshot	rs267606673
SNPdbe	rs267606673
MSV3d	rs267606673
GWAS Ctlg	rs267606673

Max Magnitude

0

ClinVar
Risk	rs267606673(T;T)
Alt	rs267606673(T;T)
Reference	Rs267606673(C;C)
Significance	Pathogenic
Disease	Distal spinal muscular atrophy
Variation	info
Gene	ATP7A
CLNDBN	Distal spinal muscular atrophy, X-linked 3
Reversed	0
HGVS	NC_000023.10:g.77284811C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012561.24,