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rs267606673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606673(C;T)
Make rs267606673(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78029314
GeneATP7A
is asnp
is mentioned by
dbSNPrs267606673
ebirs267606673
HLIrs267606673
Exacrs267606673
Varsomers267606673
Maprs267606673
PheGenIrs267606673
hapmaprs267606673
1000 genomesrs267606673
hgdprs267606673
ensemblrs267606673
gopubmedrs267606673
geneviewrs267606673
scholarrs267606673
googlers267606673
pharmgkbrs267606673
gwascentralrs267606673
openSNPrs267606673
23andMers267606673
23andMe allrs267606673
SNP Nexus

SNPshotrs267606673
SNPdbers267606673
MSV3drs267606673
GWAS Ctlgrs267606673
Max Magnitude0
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,