SNP Report
Name | rs3213207 dbSNP Ensembl | ||
---|---|---|---|
Location | 6:15627871 - 15627871(+) | ||
Variant Seq | C | ||
Ancestral Allele | T | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.0591054 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000344537, LRG_588t2, ENST00000510395, ENST00000355917, ENST00000513680, ENST00000511762, LRG_588t1, ENST00000622898, ENST00000515875, ENST00000338950, ENST00000506844); NMD_transcript_variant(ENST00000510395, ENST00000513680, ENST00000515875, ENST00000506844) | ||
SIFT Annotation | deleterious; tolerated | ||
SIFT Variant Effect | deleterious(ENST00000344537, LRG_588t1, ENST00000622898, ENST00000355917, ENST00000338950, LRG_588t2); tolerated(ENST00000515875, ENST00000511762) | ||
PolyPhen Annotation | benign; possibly_damaging | ||
PolyPhen Variant Effect | benign(ENST00000344537, ENST00000515875, LRG_588t1, ENST00000355917, ENST00000338950, ENST00000511762, LRG_588t2); possibly_damaging(ENST00000622898) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;Enhancers;Flanking Active TSS | ||
No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; 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.