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rs72554652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72554652(A;A)
Make rs72554652(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78029389
GeneATP7A
is asnp
is mentioned by
dbSNPrs72554652
ebirs72554652
HLIrs72554652
Exacrs72554652
Varsomers72554652
Maprs72554652
PheGenIrs72554652
hapmaprs72554652
1000 genomesrs72554652
hgdprs72554652
ensemblrs72554652
gopubmedrs72554652
geneviewrs72554652
scholarrs72554652
googlers72554652
pharmgkbrs72554652
gwascentralrs72554652
openSNPrs72554652
23andMers72554652
23andMe allrs72554652
SNP Nexus

SNPshotrs72554652
SNPdbers72554652
MSV3drs72554652
GWAS Ctlgrs72554652
Max Magnitude0
OMIM300011
Desc
Variant0009
Relatedalso


ClinVar
Risk rs72554652(A;A)
Alt rs72554652(A;A)
Reference rs72554652(G;G)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77284886G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012555.17,