rs267606672

Orientation

plus

Stabilized

plus

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

Make rs267606672(C;T)

Make rs267606672(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

78045502

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs267606672
dbSNP (classic)	rs267606672
ClinGen	rs267606672
ebi	rs267606672
HLI	rs267606672
Exac	rs267606672
Gnomad	rs267606672
Varsome	rs267606672
LitVar	rs267606672
Map	rs267606672
PheGenI	rs267606672
Biobank	rs267606672
1000 genomes	rs267606672
hgdp	rs267606672
ensembl	rs267606672
geneview	rs267606672
scholar	rs267606672
google	rs267606672
pharmgkb	rs267606672
gwascentral	rs267606672
openSNP	rs267606672
23andMe	rs267606672
SNPshot	rs267606672
SNPdbe	rs267606672
MSV3d	rs267606672
GWAS Ctlg	rs267606672

Max Magnitude

0

ClinVar
Risk	rs267606672(T;T)
Alt	rs267606672(T;T)
Reference	Rs267606672(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.77300999C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012562.16,