Annotation
Position
chr7 : 148504618
Genotype
C/A
Gene
HGVS DNA code
HGVS=EZH2
HGVS protein code
Author:
GeneTalk
dbSNP Flags:
- Has SubmitterLinkOut (From SNP->SubSNP->Batch.link_out)
- SNP is Precious (Clinical,Pubmed Cited)
- Links exist to PubMed Central article
- In 3' UTR Location is in an untranslated region (UTR). (FxnCode = 53)
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- Weight=1. (Weight on NCBI reference assembly.)
- Genotypes available. The snp has individual genotype (in SubInd table).
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Single base polymorphism SNP
- SNP is Precious (Clinical,Pubmed Cited)
- Links exist to PubMed Central article
- In 3' UTR Location is in an untranslated region (UTR). (FxnCode = 53)
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- Weight=1. (Weight on NCBI reference assembly.)
- Genotypes available. The snp has individual genotype (in SubInd table).
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Single base polymorphism SNP
Created at March 09, 2013 15:27, Last update March 09, 2013 15:27
Voting
Clinical significance
Pathogenic
Votes
| Stars | Clinical significance |
|---|---|
| 5 | 3 votes |
| 4 | 0 votes |
| 3 | 0 votes |
| 2 | 0 votes |
| 1 | 0 votes |
Comments
Back