Annotation
Position
chr1 : 197070521
Genotype
G/C
Gene
HGVS DNA code
HGVS=ASPM:NM_018136:exon18:c.7859_7860del:p.2620_2620del,
HGVS protein code
Author:
GeneTalk
dbSNP Flags:
- Has 3D structure (SNP3D table)
- Has SubmitterLinkOut (From SNP->SubSNP->Batch.link_out)
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- In Intron (FxnCode = 6)
- Has non-synonymous missense (A coding region variation where one allele in the set changes protein peptide. FxnClass = 42)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- Is Validated. (The snp has 2+ minor allele count based on frequency or genotype data.)
- >5% minor allele frequency in 1+ populations
- Marker is on high density genotyping kit (50K density or greater). The snp may have phenotype associations present in dbGaP.
- Genotypes available. The snp has individual genotype (in SubInd table).
- 1000 Genome Phase 1 ( include June Interim phase 1)
- RS Cluster has TGP Submission as of June 2011 (include all current RS from TGP): VCF - KGPROD
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- HapMap Phase 3 genotyped: filtered, non- redundant. (VCF: PH3)
- Submitted from a locus-specific database.
- Single base polymorphism SNP
- Has Genotype Conflict Same (rs, ind), different genotype. N/N is not included.
- Has SubmitterLinkOut (From SNP->SubSNP->Batch.link_out)
- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- In Intron (FxnCode = 6)
- Has non-synonymous missense (A coding region variation where one allele in the set changes protein peptide. FxnClass = 42)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- Is Validated. (The snp has 2+ minor allele count based on frequency or genotype data.)
- >5% minor allele frequency in 1+ populations
- Marker is on high density genotyping kit (50K density or greater). The snp may have phenotype associations present in dbGaP.
- Genotypes available. The snp has individual genotype (in SubInd table).
- 1000 Genome Phase 1 ( include June Interim phase 1)
- RS Cluster has TGP Submission as of June 2011 (include all current RS from TGP): VCF - KGPROD
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- HapMap Phase 3 genotyped: filtered, non- redundant. (VCF: PH3)
- Submitted from a locus-specific database.
- Single base polymorphism SNP
- Has Genotype Conflict Same (rs, ind), different genotype. N/N is not included.
Created at March 09, 2013 13:09, Last update January 26, 2015 22:23
Voting
Clinical significance
Likely benign
Votes
Stars | Clinical significance |
---|---|
5 | 0 votes |
4 | 0 votes |
3 | 0 votes |
2 | 3 votes |
1 | 0 votes |
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