PTSDgene database

SNP Report

Basic Info
Name rs62057143 dbSNP Ensembl
Location 17:45824162 - 45824162(+)
Variant Seq C
Ancestral Allele T
Ref Seq T
Minor Allele Frequence 0.086262
Annotation intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect intron_variant(ENST00000583888, ENST00000634876, ENST00000580955, ENST00000314537, ENST00000347197, ENST00000293493, ENST00000398285, ENST00000339069, ENST00000577353, ENST00000582766, ENST00000619154, ENST00000352855, ENST00000634540); NMD_transcript_variant(ENST00000583888, ENST00000580955, ENST00000347197); non_coding_transcript_variant(ENST00000634876, ENST00000582766)
SIFT Annotation deleterious_-_low_confidence; tolerated
SIFT Variant Effect deleterious_-_low_confidence(ENST00000619154); tolerated(ENST00000339069, ENST00000347197, ENST00000314537, ENST00000293493, ENST00000583888, ENST00000352855, ENST00000398285, ENST00000577353)
PolyPhen Annotation unknown; benign; probably_damaging
PolyPhen Variant Effect unknown(ENST00000619154); benign(ENST00000339069, ENST00000293493, ENST00000352855, ENST00000398285, ENST00000577353); probably_damaging(ENST00000347197, ENST00000314537, ENST00000583888)
rSNP? Yes Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Enhancers;Bivalent Enhancer;Weak transcription
No. of Marker's Association Results 0 (Positive: 0; Negative: 0; Trend: 0)
Source LD-proxy

SNP related association results


SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
CRHR1 corticotropin releasing hormone receptor 1 17q21.31 12(6/6/0)
MAPT-AS1 MAPT antisense RNA 1 17q21.31 Mapped by Literature SNP, Mapped by LD-proxy, rSNP target

SNPs in LD with rs62057143 (count: 0)

SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
DND1P1 No Adipose Subcutaneous cis GTEx