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rs701753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs701753(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149198448
GeneCP
is asnp
is mentioned by
dbSNPrs701753
ebirs701753
HLIrs701753
Exacrs701753
Varsomers701753
Maprs701753
PheGenIrs701753
hapmaprs701753
1000 genomesrs701753
hgdprs701753
ensemblrs701753
gopubmedrs701753
geneviewrs701753
scholarrs701753
googlers701753
pharmgkbrs701753
gwascentralrs701753
openSNPrs701753
23andMers701753
23andMe allrs701753
SNP Nexus

SNPshotrs701753
SNPdbers701753
MSV3drs701753
GWAS Ctlgrs701753
GMAF0.1139
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene CP
allele A
frequency 0.925
sift AFFECT FUNCTION
HuRef 1103656260162
Disease Association Ceruloplasmin levels are decreased in Wilson disease, in which copper cannot be incorporated into ceruloplasmin in liver because of defects in the copper-transporting ATPase 2.



[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.


GET Evidence
CP-E544D
aa_change Glu544Asp
aa_change_short E544D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.850961
summary



[PMID 25943368OA-icon.png] Ceruloplasmin activity and iron chelation treatment of patients with Parkinson's disease


ClinVar
Risk rs701753(A;A)
Alt rs701753(A;A)
Reference rs701753(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CP
CLNDBN not specified
Reversed 0
HGVS NC_000003.11:g.148916235T>A
CLNSRC
CLNACC RCV000180465.1,