SV2C, synaptic vesicle glycoprotein 2C, 22987

N. diseases: 15; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs31243
rs31243
Entrez Id: 22987;105379042
Gene Symbol: SV2C;LOC105379042
SV2C;LOC105379042
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs31243
rs31243
Entrez Id: 22987;105379042
Gene Symbol: SV2C;LOC105379042
SV2C;LOC105379042
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs114247285
rs114247285
Entrez Id: 22987
Gene Symbol: SV2C
SV2C
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
A 0.700 GeneticVariation GWASCAT A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder. 29325848 2018
dbSNP: rs79069165
rs79069165
Entrez Id: 22987
Gene Symbol: SV2C
SV2C
CUI: C0242383
Disease:
Age related macular degeneration
C 0.700 GeneticVariation GWASCAT Genome-wide analysis of disease progression in age-related macular degeneration. 29346644 2018
dbSNP: rs34148541
rs34148541
Entrez Id: 22987
Gene Symbol: SV2C
SV2C
CUI: C1305855
Disease:
Body mass index
G 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs2270927
rs2270927
Entrez Id: 22987;105379042
Gene Symbol: SV2C;LOC105379042
SV2C;LOC105379042
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs6453204
rs6453204
Entrez Id: 22987
Gene Symbol: SV2C
SV2C
CUI: C0678222
Disease:
Breast Carcinoma
0.700 GeneticVariation GWASCAT Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. 25117820 2014
dbSNP: rs981113
rs981113
Entrez Id: 22987
Gene Symbol: SV2C
SV2C
CUI: C0455829
Disease:
Waist Circumference
0.700 GeneticVariation GWASDB NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. 19557197 2009
dbSNP: rs6453204
rs6453204
Entrez Id: 22987
Gene Symbol: SV2C
SV2C
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Similar associations with rs6453204 were seen for CTC grade 3-5 hypertension but did not meet genome-wide significance. 25117820 2014
dbSNP: rs10214163
rs10214163
Entrez Id: 22987
Gene Symbol: SV2C
SV2C
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE While no other SNP achieved study-wide significance, one SNP (rs10214163) influencing Parkinson's disease displayed nominally significant association with olanzapine and quetiapine response, while the second such SNP (rs30196) showed a statistical trend toward correlating with olanzapine and quetiapine response. 23886675 2013
dbSNP: rs30196
rs30196
Entrez Id: 22987;105379041
Gene Symbol: SV2C;LOC105379041
SV2C;LOC105379041
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE While no other SNP achieved study-wide significance, one SNP (rs10214163) influencing Parkinson's disease displayed nominally significant association with olanzapine and quetiapine response, while the second such SNP (rs30196) showed a statistical trend toward correlating with olanzapine and quetiapine response. 23886675 2013