PTSDgene database

SNP Report

Basic Info
Name rs10002308 dbSNP Ensembl
Location 4:168478672 - 168478672(+)
Variant Seq A
Ancestral Allele A
Ref Seq C
Minor Allele Frequence 0.389976
Annotation intron_variant; non_coding_transcript_variant
Variant Effect intron_variant(ENST00000511577, ENST00000515088, ENST00000260184, ENST00000514748, ENST00000512371, ENST00000505696, ENST00000513901, ENST00000505890, ENST00000505150); non_coding_transcript_variant(ENST00000515088, ENST00000513901, ENST00000505150)
SIFT Annotation deleterious
SIFT Variant Effect deleterious(ENST00000512371, ENST00000505696, ENST00000514748, ENST00000511577, ENST00000505890, ENST00000260184)
PolyPhen Annotation probably_damaging
PolyPhen Variant Effect probably_damaging(ENST00000512371, ENST00000505696, ENST00000514748, ENST00000511577, ENST00000505890, ENST00000260184)
rSNP? Yes Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Weak transcription;Active TSS;Enhancers;Flanking Active TSS;Genic enhancers
No. of Marker's Association Results 1 (Positive: 0; Negative: 0; Trend: 1)
Source Literature

SNP related association results
Normal genetic study related association results (count: 1)
Reference Phenotype Statistical Values Author Comments Marker's Category
Ashley-Koch, A. E.,2015 Current PTSD In meta-analysis: main effect P-value=1.67E-05. In meta-analysis: main effect P-value=1.67E-05. This SNP was nominally significant with current PTSD after m...... This SNP was nominally significant with current PTSD after mete-analysis of NHB and NHW subset (P-value More... Trend
G*E study related association result (count: 2)
Reference Phenotype Environment Statistical Values Author Comments Marker's Category
Ashley-Koch, A. E.,2015 Current PTSD Childhood trauma Logistic regression (additive genetic model) in NHB subset: ...... Logistic regression (additive genetic model) in NHB subset: snp and child trauma interaction P-value=0.39; in NHW subset: snp and child trauma interaction P-value=0.046. More... Among the NHW, we observed nominally significant interaction...... Among the NHW, we observed nominally significant interactions with childhood trauma for DDX60L. More... Non-significant
Ashley-Koch, A. E.,2015 Current PTSD NTE (number of traumatic events) Logistic regression (additive genetic model) in NHB subset: ...... Logistic regression (additive genetic model) in NHB subset: snp and total trauma interaction P-value=0.88; in NHW subset: snp and total trauma interaction P-value=0.01. More... The interaction between the total number of traumatic events...... The interaction between the total number of traumatic events and DDX60L in the NHW subset was nominally significant, consistent with the interaction observation with childhood trauma. More... Non-significant


SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
DDX60L DEAD-box helicase 60-like 4q32.3 1(0/0/1)

SNPs in LD with rs10002308 (count: 9)
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 9)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
CRHR1-IT1 Yes Adipose Subcutaneous cis GTEx