SNP Report

Basic Info

Name	rs60637 dbSNP Ensembl
Location	chr12:51806958 - 51806958(1)
Variant Alleles	C/A/G/T
Ancestral Allele	C
Minor Allele	A
Minor Allele Frequence	0.489018
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant; synonymous_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000636945, ENST00000637709); downstream_gene_variant(ENST00000565518); NMD_transcript_variant(ENST00000636945, ENST00000637709); synonymous_variant(ENST00000354534, ENST00000355133, ENST00000545061, ENST00000599343, ENST00000627620)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Wang, Y., 2008	C/A		Allelic P-value = 0.3244, permutated P-value = 0.7408; geno...... Allelic P-value = 0.3244, permutated P-value = 0.7408; genotypic P-value = 0.5383 More...		Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
SCN8A	sodium channel, voltage gated, type VIII alpha subunit	12q13.1	1(1/0/0)

SNPs in LD with rs60637 (count: 25) View in gBrowse (chr12:51774913..51830007 )

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: 25)

rs_ID	Functional Annotation	r²[population]
rs2241853	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.867[JPT]
rs2099715	intron_variant; NMD_transcript_variant	0.953[JPT]
rs10506303	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.953[JPT]
rs9943714	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.867[JPT]
rs516505	intron_variant; non_coding_transcript_variant	0.837[CHD]
rs303802	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.82[CHB]; 1.0[JPT]
rs2241855	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.867[JPT]
rs12580969	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.862[CHD]; 0.909[JPT]
rs3741705	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant	0.952[JPT]
rs11837913	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.867[JPT]
rs12578450	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.953[JPT]
rs12581041	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.902[JPT]
rs9943809	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.953[JPT]
rs303824	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.87[CHB]; 1.0[CHD]; 0.909[JPT]
rs2304698	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.867[JPT]
rs303815	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant; synonymous_variant	0.954[CHB]; 0.976[CHD]; 0.909[JPT]
rs17126078	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.951[JPT]
rs10876210	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.823[CHD]
rs303817	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 0.951[CHD]; 1.0[JPT]
rs11169916	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.953[JPT]
rs1439791	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.867[JPT]
rs303814	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.807[CHB]; 0.907[JPT]
rs303816	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.82[CHB]; 0.953[CHD]; 1.0[JPT]
rs2241854	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.953[JPT]
rs7306698	intron_variant; NMD_transcript_variant	0.861[CHB]; 1.0[JPT]

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

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