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rs267606672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606672(C;T)
Make rs267606672(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78045502
GeneATP7A
is asnp
is mentioned by
dbSNPrs267606672
ebirs267606672
HLIrs267606672
Exacrs267606672
Varsomers267606672
Maprs267606672
PheGenIrs267606672
hapmaprs267606672
1000 genomesrs267606672
hgdprs267606672
ensemblrs267606672
gopubmedrs267606672
geneviewrs267606672
scholarrs267606672
googlers267606672
pharmgkbrs267606672
gwascentralrs267606672
openSNPrs267606672
23andMers267606672
23andMe allrs267606672
SNP Nexus

SNPshotrs267606672
SNPdbers267606672
MSV3drs267606672
GWAS Ctlgrs267606672
Max Magnitude0
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,