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)