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rs4523977

From SNPedia

Orientationplus
Stabilizedplus
Make rs4523977(A;A)
Make rs4523977(A;G)
Make rs4523977(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41727098
GeneHAP1
is asnp
is mentioned by
dbSNPrs4523977
ebirs4523977
HLIrs4523977
Exacrs4523977
Varsomers4523977
Maprs4523977
PheGenIrs4523977
hapmaprs4523977
1000 genomesrs4523977
hgdprs4523977
ensemblrs4523977
gopubmedrs4523977
geneviewrs4523977
scholarrs4523977
googlers4523977
pharmgkbrs4523977
gwascentralrs4523977
openSNPrs4523977
23andMers4523977
23andMe allrs4523977
SNP Nexus

SNPshotrs4523977
SNPdbers4523977
MSV3drs4523977
GWAS Ctlgrs4523977
GMAF0.2011
Max Magnitude
? (A;A) (A;G) (G;G) 28
OMIM600947
DescHUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1
Variant
Relatedalso
OMIM143100
Desc
Variant
Relatedalso


[PMID 22698993] Age at onset in Huntington's disease: Replication study on the association of HAP1


GET Evidence
HAP1-T493M
aa_change Thr493Met
aa_change_short T493M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.164062
summary