SNP Report

Basic Info

Name	rs1800497 dbSNP Ensembl
Location	11:113400106 - 113400106(+)
Variant Seq	A
Ancestral Allele	A
Ref Seq	G
Minor Allele Frequence	0.325679
Annotation	downstream_gene_variant; missense_variant
Variant Effect	downstream_gene_variant(ENST00000542948); missense_variant(ENST00000303941)
SIFT Annotation	tolerated
SIFT Variant Effect	tolerated(ENST00000303941)
PolyPhen Annotation	benign
PolyPhen Variant Effect	benign(ENST00000303941)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Weak transcription;Strong transcription
No. of Marker's Association Results	11 (Positive: 5; Negative: 6; Trend: 0)
Source	Literature

SNP related association results

Normal genetic study related association results (count: 11)

Reference	Phenotype	Statistical Values	Author Comments	Marker's Category
Comings, D. E.,1996	Avoidance of trauma-associated stimuli	F=10.92,P-value=0.0017 F=10.92,P-value=0.0017	All three subscores were significantly higher in the D2A1 ca...... All three subscores were significantly higher in the D2A1 carriers than the D2A2A3 homozygotes, avoidance of trauma-associated stimuli remained significant following a Bonferonni correction for multiple comparisons requiring a P-value of 0.05/4. More...	Significant
Comings, D. E.,1996	Increased hyperreactivity and vigilance	F=23.43,P-value <0.0001 F=23.43,P-value <0.0001	All three subscores were significantly higher in the D2A1 ca...... All three subscores were significantly higher in the D2A1 carriers than the D2A2A4 homozygotes, increased hyperreactivity and vigilance remained significant following a Bonferonni correction for multiple comparisons requiring a P-value of 0.05/4. More...	Significant
Voisey, J.,2009	PTSD	Allele frequencies: X²= 2.80, P-value= 0.094, Od...... Allele frequencies: X²= 2.80, P-value= 0.094, Odd's ratio (95% CI): 1.39(0.93-2.07), Genotype frequencies: Likelihood-ratio chi-square test: X²= 3.67, P-value= 0.160, Mantel-Haenszel chi-square test for trend: X²=2.79, P-value=0.095 More...	No association with PTSD was observed for rs1800497 polymorp...... No association with PTSD was observed for rs1800497 polymorphisms at the allele or genotype level. More...	Non-significant
Bailey, J. N.,2010	PTSD category B symptom score	B=0.62, P-value=0.61 B=0.62, P-value=0.61	There was no association between DRD2/A1+ allele and PTSD ca...... There was no association between DRD2/A1+ allele and PTSD category B symptom score. More...	Non-significant
Bailey, J. N.,2010	PTSD category C symptom score	B=1.28, P-value=0.39 B=1.28, P-value=0.39	There was no association between DRD2/A1+ allele and PTSD ca...... There was no association between DRD2/A1+ allele and PTSD category C symptom score. More...	Non-significant
Comings, D. E.,1996	PTSD diagnosis	X²=15.23, P-value=0.00010 X²=15.23, P-value=0.00010	For the total group, of those who meet criteria, 59.5% carri...... For the total group, of those who meet criteria, 59.5% carried the D2A1 allele versus 5.3% of those who did not meet criteria. More...	Significant
Gelernter, J.,1999	PTSD diagnosis	Analysis by alleles: X²=0.35, P-value=0.55; anal...... Analysis by alleles: X²=0.35, P-value=0.55; analysis by carrier: X²=0.41, P-value=0.52. More...	Frequency of the A1 allele in this sample was not significan...... Frequency of the A1 allele in this sample was not significantly different from the allele frequency seen in 87 control subjects. More...	Non-significant
Bailey, J. N.,2010	PTSD diagnosis	X²=0.35, P-value=0.56, after controlling for alco...... X²=0.35, P-value=0.56, after controlling for alcohol dependency: B=?3.36, P-value=0.44 More...	There was no association between DRD2/A1+ allele and PTSD di...... There was no association between DRD2/A1+ allele and PTSD diagnosis. More...	Non-significant
Bailey, J. N.,2010	PTSD symptoms	B=1.92, P-value=0.44 B=1.92, P-value=0.44	There was no association between DRD2/A1+ allele and total P...... There was no association between DRD2/A1+ allele and total PTSD-RI scores. More...	Non-significant
Comings, D. E.,1996	Reexperiencing of the traumatic events	F=5.34,P-value=0.025 F=5.34,P-value=0.025	All three subscores were significantly higher in the D2A1 ca...... All three subscores were significantly higher in the D2A1 carriers than the D2A2A2 homozygotes. More...	Significant
Comings, D. E.,1996	Total PTSD score	F=15.89,P-value=0.0002 F=15.89,P-value=0.0002	Total PTSD score remained significant following a Bonferonni...... Total PTSD score remained significant following a Bonferonni correction for multiple comparisons requiring a P-value of 0.05/4. More...	Significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
DRD2	dopamine receptor D2	11q23.2	18(11/7/0)
ANKK1	ankyrin repeat and kinase domain containing 1	11q23.2	Mapped by Literature SNP, Mapped by LD-proxy, rSNP target

SNPs in LD with rs1800497 (count: 2)

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: 2)

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs34863235	rs1800497 rs2242591	intron_variant; NMD_transcript_variant	0.9125[EUR]
rs7118900	rs1800497 rs2242591	missense_variant; 3_prime_UTR_variant; NMD_transcript_variant	0.9297[EUR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
LRRC37A4P	No	Adipose Subcutaneous	cis	GTEx