BDgene

SNP Report

Basic Info
Name rs1718119 dbSNP Ensembl
Location chr12:121177300 - 121177300(1)
Variant Alleles G/A/T
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.322484
Functional Annotation 3_prime_UTR_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Polyphen Annotation: benign(ENST00000328963)
SIFT Annotation: tolerated(ENST00000328963)
Consequence to Transcript 3_prime_UTR_variant(ENST00000261826, ENST00000535250, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716); missense_variant(ENST00000328963); NMD_transcript_variant(ENST00000261826, ENST00000535250, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716); non_coding_transcript_exon_variant(ENST00000539695); non_coding_transcript_variant(ENST00000539695)
No. of Studies 4 (Positive: 1; Negative: 3; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? NO

SNP related studies (count: 4)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
McQuillin, A.,2009 Allelic Association: X2=0.336, P-value = 0.562 Allelic Association: X2=0.336, P-value = 0.562 No significant association was observed No significant association was observed Negative
Green, E. K.,2009 Pearson chi-squared analysis: Between Bipolar I Disorder and...... Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.23, genotype: P-value = 0.46(OR=1.09, 95%CI=0.95-1.25); Between Unipolar Disorder and Control: allele: P-value = 0.13, genotype: P-value = 0.30(OR=1.10, 95%CI=0.97-1.24); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.097, genotype: P-value = 0.24(OR=1.10, 95%CI=0.98-1.22) More... No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More... Negative
Yosifova, A.,2009 A/G Allelic association: P-value = 0.24 Allelic association: P-value = 0.24 No significant association was observed No significant association was observed Negative
Barden, N., 2006 G/A Allelic P-value = 0.9343, OR (CI 95%)=1.02 (0.77-1.35), geno...... Allelic P-value = 0.9343, OR (CI 95%)=1.02 (0.77-1.35), genotypic P-value = 0.0172, OR (CI 95%)=1.34 (0.90-1.98) under an additive model More... It gave significant allelic and/or genotypic association und...... It gave significant allelic and/or genotypic association under additive, dominant and recessive models. More... Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 12q24 9(2/7/0)

SNPs in LD with rs1718119 (count: 16) View in gBrowse (chr12:121168256..121187288 )
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 16)


Overlap with SZ from cross-disorder studies (count: 0)

Overlap with MDD from cross-disorder studies (count: 0)