BDgene

SNP Report

Basic Info
Name rs78247304 dbSNP Ensembl
Location chr2:162446391 - 162446391(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele Frequence 0.0
Functional Annotation missense_variant.
Polyphen Annotation: possibly damaging(ENST00000332142); probably damaging(ENST00000618399); benign(ENST00000328032, ENST00000621889)
SIFT Annotation: deleterious(ENST00000328032, ENST00000621889, ENST00000332142, ENST00000618399)
Consequence to Transcript missense_variant(ENST00000328032, ENST00000621889, ENST00000332142, ENST00000618399)
No. of Studies 2 (Positive: 1; Negative: 0; Trend: 1)
Source Literature
Overlap with SZ? NO
Overlap with MDD? NO

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Georgi, B., 2014 C/T 7 in BPI, 5 in Well 7 in BPI, 5 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
Strauss, K. A., 2014 C/T Bipolar 1 disorder: X2=4.2, FBAT P-value=0.021, E...... Bipolar 1 disorder: X2=4.2, FBAT P-value=0.021, EMMAX P-value=0.174; Bipolar spectrum disorder: X3=7.3, FBAT P-value=0.031, EMMAX P-value=0.013 More... The only candidate allele shared among them was rs78247304, ...... The only candidate allele shared among them was rs78247304, a non-synonymous variant of KCNH7(c.1181G >A, p.Arg394His). More... Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
KCNH7 potassium channel, voltage gated eag related subfamily H, member 7 2q24.3 3(2/0/1)

SNPs in LD with rs78247304 (count: 0) View in gBrowse (chr2:162446391..162446391 )

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

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