BDgene

SNP Report

Basic Info
Name rs200746889 dbSNP Ensembl
Location chr2:61186626 - 61186626(1)
Variant Alleles C/A
Ancestral Allele C
Minor Allele Frequence 0.0
Functional Annotation 3_prime_UTR_variant; downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Polyphen Annotation: probably damaging(ENST00000357022, ENST00000394457, ENST00000410073)
SIFT Annotation: deleterious(ENST00000357022, ENST00000394457, ENST00000410073)
Consequence to Transcript 3_prime_UTR_variant(ENST00000489653); downstream_gene_variant(ENST00000398571, ENST00000411912, ENST00000436269, ENST00000463046, ENST00000487904, ENST00000490552, ENST00000492604, ENST00000493310, ENST00000498268); missense_variant(ENST00000357022, ENST00000394457, ENST00000410073); non_coding_transcript_exon_variant(ENST00000471542, ENST00000484217, ENST00000491217, ENST00000493628); non_coding_transcript_variant(ENST00000471542, ENST00000484217, ENST00000491217, ENST00000493628)
No. of Studies 1 (Positive: 0; Negative: 0; Trend: 1)
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
Georgi, B., 2014 C/A 8 in BPI, 1 in Well 8 in BPI, 1 in Well Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More... Trend

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
USP34 ubiquitin specific peptidase 34 2p16.1-p15 Mapped by Literature SNP
AHSA2 AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) 2p14 1(0/0/1)

SNPs in LD with rs200746889 (count: 0) View in gBrowse (chr2:61186626..61186626 )

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

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