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rs72554649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554649(C;T)
Make rs72554649(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78029271
GeneATP7A
is asnp
is mentioned by
dbSNPrs72554649
ebirs72554649
HLIrs72554649
Exacrs72554649
Varsomers72554649
Maprs72554649
PheGenIrs72554649
hapmaprs72554649
1000 genomesrs72554649
hgdprs72554649
ensemblrs72554649
gopubmedrs72554649
geneviewrs72554649
scholarrs72554649
googlers72554649
pharmgkbrs72554649
gwascentralrs72554649
openSNPrs72554649
23andMers72554649
23andMe allrs72554649
SNP Nexus

SNPshotrs72554649
SNPdbers72554649
MSV3drs72554649
GWAS Ctlgrs72554649
Max Magnitude0
OMIM300011
Desc
Variant0005
Relatedalso


ClinVar
Risk rs72554649(T;T)
Alt rs72554649(T;T)
Reference rs72554649(C;C)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77284768C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012551.23,