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rs1063739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1063739(A;A)
Make rs1063739(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position144504344
GeneGPT
is asnp
is mentioned by
dbSNPrs1063739
ebirs1063739
HLIrs1063739
Exacrs1063739
Varsomers1063739
Maprs1063739
PheGenIrs1063739
hapmaprs1063739
1000 genomesrs1063739
hgdprs1063739
ensemblrs1063739
gopubmedrs1063739
geneviewrs1063739
scholarrs1063739
googlers1063739
pharmgkbrs1063739
gwascentralrs1063739
openSNPrs1063739
23andMers1063739
23andMe allrs1063739
SNP Nexus

SNPshotrs1063739
SNPdbers1063739
MSV3drs1063739
GWAS Ctlgrs1063739
GMAF0.4155
Max Magnitude0
? (A;A) (A;C) (C;C) 28
OMIM138200
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1063739(A,G;A,G)
Alt rs1063739(A,G;A,G)
Reference rs1063739(C;C)
Significance Non-pathogenic
Disease GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM
Variation info
Gene GPT
CLNDBN GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM
Reversed 0
HGVS NC_000008.10:g.145729727C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017468.2,



[PMID 17249369] [SNP pentaplex--the allele frequency database of central Poland population].

[PMID 18767499] [The central Poland population database of 500 SNP alleles].

[PMID 20073261] [The usefulness of SNP markers for analyses of highly degraded biological materials].


GET Evidence
GPT-H14N
aa_change His14Asn
aa_change_short H14N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.381904
summary