rs4788985

Homo sapiens
A>G
SEPT9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0361 (10511/29118,TOPMED)
G=0420 (2104/5008,1000G)
G=0485 (1869/3854,ALSPAC)
G=0483 (1791/3708,TWINSUK)
chr17:77317253 (GRCh38.p7) (17q25.3)
ND | AD
GWASdb2
1   publication(s)
See rs on genome
88 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.77317253A>G
GRCh37.p13 chr 17NC_000017.10:g.75313335A>G
SEPT9 RefSeqGeneNG_011683.1:g.40844A>G

Gene: SEPT9, septin 9(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SEPT9 transcript variant 1NM_001113491.1:c.N/AIntron Variant
SEPT9 transcript variant 5NM_001113492.1:c.N/AIntron Variant
SEPT9 transcript variant 8NM_001293695.1:c.N/AIntron Variant
SEPT9 transcript variant 2NM_001113493.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant 6NM_001113494.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant 4NM_001113495.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant 7NM_001113496.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant 9NM_001293696.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant 10NM_001293697.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant 11NM_001293698.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant 3NM_006640.4:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant X3XM_006721643.2:c.N/AIntron Variant
SEPT9 transcript variant X1XM_011524204.1:c.N/AIntron Variant
SEPT9 transcript variant X9XM_005256962.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant X6XM_006721644.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant X2XM_011524206.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant X4XM_011524207.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant X8XM_011524208.2:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant X5XM_017024031.1:c.N/AGenic Upstream Transcript Variant
SEPT9 transcript variant X7XM_017024032.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.846G=0.154
1000GenomesAmericanSub694A=0.470G=0.530
1000GenomesEast AsianSub1008A=0.459G=0.541
1000GenomesEuropeSub1006A=0.483G=0.517
1000GenomesGlobalStudy-wide5008A=0.580G=0.420
1000GenomesSouth AsianSub978A=0.520G=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.515G=0.485
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.639G=0.361
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.517G=0.483
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs47889850.00018nicotine use23942779
rs47889850.00078alcohol consumption23942779

eQTL of rs4788985 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4788985 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr177530088375300962E067-12373
chr177531192175312019E067-1316
chr177531202175313058E067-277
chr177531774275320512E0674407
chr177535499275355289E06741657
chr177535541875355613E06742083
chr177535977175360410E06746436
chr177536094875361075E06747613
chr177536109575361377E06747760
chr177536149675361561E06748161
chr177536165175362651E06748316
chr177536266775363281E06749332
chr177531202175313058E068-277
chr177531764875317692E0684313
chr177531774275320512E0684407
chr177534634175348217E06833006
chr177535977175360410E06846436
chr177536042775360815E06847092
chr177536094875361075E06847613
chr177536109575361377E06847760
chr177536149675361561E06848161
chr177536165175362651E06848316
chr177536266775363281E06849332
chr177530088375300962E069-12373
chr177530489775305814E069-7521
chr177531192175312019E069-1316
chr177531774275320512E0694407
chr177535977175360410E06946436
chr177536042775360815E06947092
chr177536165175362651E06948316
chr177530018875300790E070-12545
chr177530088375300962E070-12373
chr177528175175285219E071-28116
chr177530088375300962E071-12373
chr177530114875301521E071-11814
chr177531764875317692E0714313
chr177531774275320512E0714407
chr177535977175360410E07146436
chr177536042775360815E07147092
chr177536094875361075E07147613
chr177536109575361377E07147760
chr177536149675361561E07148161
chr177536165175362651E07148316
chr177536266775363281E07149332
chr177528175175285219E072-28116
chr177531166375311882E072-1453
chr177531192175312019E072-1316
chr177531774275320512E0724407
chr177532692875327104E07213593
chr177532715175327212E07213816
chr177532729775329639E07213962
chr177535499275355289E07241657
chr177535977175360410E07246436
chr177536042775360815E07247092
chr177536149675361561E07248161
chr177536165175362651E07248316
chr177536266775363281E07249332
chr177530489775305814E073-7521
chr177530989475309987E073-3348
chr177532060575320800E0737270
chr177532729775329639E07313962
chr177535499275355289E07341657
chr177535541875355613E07342083
chr177535977175360410E07346436
chr177536042775360815E07347092
chr177536165175362651E07348316
chr177536266775363281E07349332
chr177531774275320512E0744407
chr177536149675361561E07448161
chr177536165175362651E07448316
chr177536266775363281E07449332
chr177529981875300152E081-13183
chr177530018875300790E081-12545
chr177530088375300962E081-12373
chr177530114875301521E081-11814
chr177530154075301785E081-11550
chr177530469375304878E081-8457
chr177530489775305814E081-7521
chr177530589575306063E081-7272
chr177531764875317692E0814313
chr177531774275320512E0814407
chr177534634175348217E08133006
chr177529981875300152E082-13183
chr177530018875300790E082-12545
chr177530088375300962E082-12373
chr177530114875301521E082-11814
chr177530489775305814E082-7521
chr177531774275320512E0824407