SNP Report
Name | rs242936 dbSNP Ensembl | ||
---|---|---|---|
Location | 17:45821843 - 45821843(+) | ||
Variant Seq | G | ||
Ancestral Allele | G | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.0698882 | ||
Annotation | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
Variant Effect | intron_variant(ENST00000398285, ENST00000577353, ENST00000580955, ENST00000634540, ENST00000339069, ENST00000314537, ENST00000347197, ENST00000293493, ENST00000582766, ENST00000634876, ENST00000352855, ENST00000583888, ENST00000619154); NMD_transcript_variant(ENST00000580955, ENST00000347197, ENST00000583888); non_coding_transcript_variant(ENST00000582766, ENST00000634876) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000339069, ENST00000314537, ENST00000398285, ENST00000580876, ENST00000577353, ENST00000634540, ENST00000352855, ENST00000293493) | ||
PolyPhen Annotation | possibly_damaging; probably_damaging | ||
PolyPhen Variant Effect | possibly_damaging(ENST00000314537); probably_damaging(ENST00000339069, ENST00000398285, ENST00000580876, ENST00000577353, ENST00000634540, ENST00000352855, ENST00000293493) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak 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.