SNP Report
Name | rs1011313 dbSNP Ensembl | ||
---|---|---|---|
Location | 6:15633201 - 15633201(+) | ||
Variant Seq | C | ||
Ancestral Allele | C | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.109026 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000338950, ENST00000355917, ENST00000513680, ENST00000515875, LRG_588t1, ENST00000510395, ENST00000511762, ENST00000622898, LRG_588t2, ENST00000506844, ENST00000344537); NMD_transcript_variant(ENST00000513680, ENST00000515875, ENST00000510395, ENST00000506844) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(LRG_588t2, ENST00000515875, ENST00000344537, ENST00000338950, LRG_588t1, ENST00000355917, ENST00000622898, ENST00000511762) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(LRG_588t2, ENST00000515875, ENST00000344537, ENST00000338950, LRG_588t1, ENST00000355917, ENST00000622898, ENST00000511762) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription;Strong transcription | ||
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.