SNP Report
Name | rs12944712 dbSNP Ensembl | ||
---|---|---|---|
Location | 17:45793781 - 45793781(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.271765 | ||
Annotation | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
Variant Effect | intron_variant(ENST00000352855, ENST00000347197, ENST00000577353, ENST00000634540, ENST00000619154, ENST00000398285, ENST00000587305, ENST00000314537, ENST00000339069, ENST00000582766, ENST00000293493); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000587305, ENST00000582766) | ||
SIFT Annotation | tolerated_-_low_confidence; deleterious_-_low_confidence | ||
SIFT Variant Effect | tolerated_-_low_confidence(ENST00000314537, ENST00000398285, ENST00000577353, ENST00000293493); deleterious_-_low_confidence(ENST00000619154, ENST00000347197, ENST00000352855) | ||
PolyPhen Annotation | unknown; benign; possibly_damaging | ||
PolyPhen Variant Effect | unknown(ENST00000619154); benign(ENST00000347197, ENST00000398285, ENST00000352855, ENST00000577353, ENST00000293493); possibly_damaging(ENST00000314537) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Enhancers;Weak transcription;Bivalent Enhancer | ||
No. of Marker's Association Results | 5 (Positive: 3; Negative: 2; 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.