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rs2227291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2227291(C;C)
Make rs2227291(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78013005
GeneATP7A
is asnp
is mentioned by
dbSNPrs2227291
ebirs2227291
HLIrs2227291
Exacrs2227291
Varsomers2227291
Maprs2227291
PheGenIrs2227291
hapmaprs2227291
1000 genomesrs2227291
hgdprs2227291
ensemblrs2227291
gopubmedrs2227291
geneviewrs2227291
scholarrs2227291
googlers2227291
pharmgkbrs2227291
gwascentralrs2227291
openSNPrs2227291
23andMers2227291
23andMe allrs2227291
SNP Nexus

SNPshotrs2227291
SNPdbers2227291
MSV3drs2227291
GWAS Ctlgrs2227291
GMAF0.2763
Max Magnitude0
? (C;C) (C;G) (G;G) 28
[PMID 18339804OA-icon.png] X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations.


GET Evidence
ATP7A-V767L
aa_change Val767Leu
aa_change_short V767L
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.254454
summary



ClinVar
Risk rs2227291(C;C)
Alt rs2227291(C;C)
Reference rs2227291(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ATP7A
CLNDBN not specified
Reversed 0
HGVS NC_000023.10:g.77268502G>C
CLNSRC ClinVar Emory University GeneDx
CLNACC RCV000078034.6,