SNP Report
Name | rs17689966 dbSNP Ensembl | ||
---|---|---|---|
Location | 17:45833089 - 45833089(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.360224 | ||
Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000580955, ENST00000582766); upstream_gene_variant(ENST00000535778, ENST00000580876); intron_variant(ENST00000583888, ENST00000619154, ENST00000398285, ENST00000634540, ENST00000634876, ENST00000581479, ENST00000293493, ENST00000352855, ENST00000339069, ENST00000314537, ENST00000347197, ENST00000577353); NMD_transcript_variant(ENST00000583888, ENST00000347197); non_coding_transcript_variant(ENST00000634876, ENST00000581479) | ||
SIFT Annotation | deleterious_-_low_confidence; deleterious | ||
SIFT Variant Effect | deleterious_-_low_confidence(ENST00000535778); deleterious(ENST00000577353, ENST00000314537, ENST00000398285, ENST00000293493, ENST00000634540, ENST00000352855, ENST00000339069) | ||
PolyPhen Annotation | benign; probably_damaging | ||
PolyPhen Variant Effect | benign(ENST00000535778); probably_damaging(ENST00000577353, ENST00000314537, ENST00000398285, ENST00000293493, ENST00000634540, ENST00000352855, ENST00000339069) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | TF binding region | ||
Chromatin State | Weak transcription | ||
No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; Trend: 0) | ||
Source | Literature |
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.