rs4684630

Homo sapiens
C>A
SRGAP3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0442 (13236/29934,GnomAD)
C==0450 (13115/29118,TOPMED)
A=0469 (2350/5008,1000G)
C==0383 (1478/3854,ALSPAC)
C==0386 (1431/3708,TWINSUK)
chr3:9245460 (GRCh38.p7) (3p25.3)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.9245460C>A
GRCh37.p13 chr 3NC_000003.11:g.9287144C>A

Gene: SRGAP3, SLIT-ROBO Rho GTPase activating protein 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SRGAP3 transcript variant 2NM_001033117.2:c.N/AIntron Variant
SRGAP3 transcript variant 1NM_014850.3:c.N/AIntron Variant
SRGAP3 transcript variant X2XM_011534295.1:c.N/AIntron Variant
SRGAP3 transcript variant X4XM_011534296.1:c.N/AIntron Variant
SRGAP3 transcript variant X5XM_017007576.1:c.N/AIntron Variant
SRGAP3 transcript variant X6XM_017007577.1:c.N/AIntron Variant
SRGAP3 transcript variant X10XM_017007580.1:c.N/AIntron Variant
SRGAP3 transcript variant X8XM_011534301.2:c.N/AGenic Upstream Transcript Variant
SRGAP3 transcript variant X12XM_011534303.1:c.N/AGenic Upstream Transcript Variant
SRGAP3 transcript variant X1XM_017007574.1:c.N/AGenic Upstream Transcript Variant
SRGAP3 transcript variant X3XM_017007575.1:c.N/AGenic Upstream Transcript Variant
SRGAP3 transcript variant X7XM_017007578.1:c.N/AGenic Upstream Transcript Variant
SRGAP3 transcript variant X10XM_017007579.1:c.N/AGenic Upstream Transcript Variant
SRGAP3 transcript variant X13XR_001740391.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.520A=0.480
1000GenomesAmericanSub694C=0.390A=0.610
1000GenomesEast AsianSub1008C=0.854A=0.146
1000GenomesEuropeSub1006C=0.407A=0.593
1000GenomesGlobalStudy-wide5008C=0.531A=0.469
1000GenomesSouth AsianSub978C=0.440A=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.383A=0.617
The Genome Aggregation DatabaseAfricanSub8704C=0.508A=0.492
The Genome Aggregation DatabaseAmericanSub838C=0.360A=0.640
The Genome Aggregation DatabaseEast AsianSub1618C=0.863A=0.137
The Genome Aggregation DatabaseEuropeSub18472C=0.379A=0.620
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.442A=0.557
The Genome Aggregation DatabaseOtherSub302C=0.340A=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.450A=0.549
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.386A=0.614
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs46846300.000348nicotine smoking19268276

eQTL of rs4684630 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 rs4684630 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 )
chr392403929240467E067-46677
chr392405309240976E067-46168
chr392413259241592E067-45552
chr392416759241794E067-45350
chr392425279242636E067-44508
chr392426569242804E067-44340
chr392430229243242E067-43902
chr392432679243550E067-43594
chr392437239244063E067-43081
chr392448489244898E067-42246
chr392457499245811E067-41333
chr392459599246695E067-40449
chr392529349253166E067-33978
chr392533799253493E067-33651
chr392573149257364E067-29780
chr392623269262376E067-24768
chr392652949265961E067-21183
chr392663269266515E067-20629
chr392665689266628E067-20516
chr392666559266838E067-20306
chr392671069267250E067-19894
chr392674959267547E067-19597
chr392679979268346E067-18798
chr392683849268612E067-18532
chr392722639272332E067-14812
chr392724529272525E067-14619
chr392725779273103E067-14041
chr392732549274003E067-13141
chr392762169276323E067-10821
chr392800849280220E067-6924
chr392803229280429E067-6715
chr392804899280546E067-6598
chr392810019281055E067-6089
chr392813099281379E067-5765
chr392814699281585E067-5559
chr392919659292030E0674821
chr393216009321656E06734456
chr392403929240467E068-46677
chr392405309240976E068-46168
chr392413259241592E068-45552
chr392416759241794E068-45350
chr392425279242636E068-44508
chr392426569242804E068-44340
chr392430229243242E068-43902
chr392432679243550E068-43594
chr392437239244063E068-43081
chr392448489244898E068-42246
chr392457499245811E068-41333
chr392459599246695E068-40449
chr392548469254918E068-32226
chr392549899255276E068-31868
chr392647469264873E068-22271
chr392663269266515E068-20629
chr392666559266838E068-20306
chr392671069267250E068-19894
chr392674959267547E068-19597
chr392679979268346E068-18798
chr392683849268612E068-18532
chr392687929268863E068-18281
chr392722639272332E068-14812
chr392724529272525E068-14619
chr392725779273103E068-14041
chr392760439276142E068-11002
chr392762169276323E068-10821
chr392810019281055E068-6089
chr392813099281379E068-5765
chr392814699281585E068-5559
chr392816259281704E068-5440
chr392817419281815E068-5329
chr392818989282050E068-5094
chr392861779286631E068-513
chr392876669287746E068522
chr392920449292154E0684900
chr392923969292446E0685252
chr393216009321656E06834456
chr392403929240467E069-46677
chr392405309240976E069-46168
chr392413259241592E069-45552
chr392416759241794E069-45350
chr392425279242636E069-44508
chr392426569242804E069-44340
chr392430229243242E069-43902
chr392432679243550E069-43594
chr392437239244063E069-43081
chr392448489244898E069-42246
chr392457499245811E069-41333
chr392459599246695E069-40449
chr392475979247658E069-39486
chr392548469254918E069-32226
chr392549899255276E069-31868
chr392584759258619E069-28525
chr392586239258729E069-28415
chr392598739260032E069-27112
chr392600849260173E069-26971
chr392647469264873E069-22271
chr392652949265961E069-21183
chr392663269266515E069-20629
chr392665689266628E069-20516
chr392666559266838E069-20306
chr392671069267250E069-19894
chr392674959267547E069-19597
chr392679979268346E069-18798
chr392683849268612E069-18532
chr392687929268863E069-18281
chr392722639272332E069-14812
chr392724529272525E069-14619
chr392725779273103E069-14041
chr392732549274003E069-13141
chr392748879275055E069-12089
chr392755899275732E069-11412
chr392760439276142E069-11002
chr392762169276323E069-10821
chr392767339276791E069-10353
chr392813099281379E069-5765
chr392814699281585E069-5559
chr392816259281704E069-5440
chr392817419281815E069-5329
chr392818989282050E069-5094
chr392829409283150E069-3994
chr392876669287746E069522
chr393216009321656E06934456
chr393217119321971E06934567
chr392377399238105E070-49039
chr392403929240467E070-46677
chr392405309240976E070-46168
chr392413259241592E070-45552
chr392416759241794E070-45350
chr392425279242636E070-44508
chr392426569242804E070-44340
chr392430229243242E070-43902
chr392432679243550E070-43594
chr392437239244063E070-43081
chr392448489244898E070-42246
chr392457499245811E070-41333
chr392475979247658E070-39486
chr392596809259724E070-27420
chr392598739260032E070-27112
chr392600849260173E070-26971
chr392647469264873E070-22271
chr392652949265961E070-21183
chr392674959267547E070-19597
chr392679979268346E070-18798
chr392683849268612E070-18532
chr392687929268863E070-18281
chr392715549271635E070-15509
chr392722639272332E070-14812
chr392724529272525E070-14619
chr392725779273103E070-14041
chr392732549274003E070-13141
chr392748879275055E070-12089
chr392800849280220E070-6924
chr392803229280429E070-6715
chr392804899280546E070-6598
chr392810019281055E070-6089
chr392813099281379E070-5765
chr392814699281585E070-5559
chr392816259281704E070-5440
chr392817419281815E070-5329
chr392818989282050E070-5094
chr392861779286631E070-513
chr392919659292030E0704821
chr392920449292154E0704900
chr392923969292446E0705252
chr393217119321971E07034567
chr393220379322860E07034893
chr393229139323002E07035769
chr392403929240467E071-46677
chr392413259241592E071-45552
chr392416759241794E071-45350
chr392425279242636E071-44508
chr392426569242804E071-44340
chr392430229243242E071-43902
chr392432679243550E071-43594
chr392437239244063E071-43081
chr392448489244898E071-42246
chr392457499245811E071-41333
chr392459599246695E071-40449
chr392548469254918E071-32226
chr392549899255276E071-31868
chr392560069256281E071-30863
chr392563459256706E071-30438
chr392570849257134E071-30010
chr392573149257364E071-29780
chr392586239258729E071-28415
chr392596809259724E071-27420
chr392598739260032E071-27112
chr392600849260173E071-26971
chr392647469264873E071-22271
chr392652949265961E071-21183
chr392663269266515E071-20629
chr392665689266628E071-20516
chr392666559266838E071-20306
chr392671069267250E071-19894
chr392722639272332E071-14812
chr392724529272525E071-14619
chr392725779273103E071-14041
chr392732549274003E071-13141
chr392800849280220E071-6924
chr392803229280429E071-6715
chr392804899280546E071-6598
chr392810019281055E071-6089
chr392813099281379E071-5765
chr392814699281585E071-5559
chr392816259281704E071-5440
chr392817419281815E071-5329
chr392818989282050E071-5094
chr392829409283150E071-3994
chr392833449283426E071-3718
chr392861779286631E071-513
chr392876669287746E071522
chr392920449292154E0714900
chr393216009321656E07134456
chr392413259241592E072-45552
chr392416759241794E072-45350
chr392425279242636E072-44508
chr392426569242804E072-44340
chr392430229243242E072-43902
chr392432679243550E072-43594
chr392437239244063E072-43081
chr392448489244898E072-42246
chr392457499245811E072-41333
chr392459599246695E072-40449
chr392475979247658E072-39486
chr392548469254918E072-32226
chr392549899255276E072-31868
chr392553379255387E072-31757
chr392563459256706E072-30438
chr392570849257134E072-30010
chr392573149257364E072-29780
chr392584759258619E072-28525
chr392586239258729E072-28415
chr392596809259724E072-27420
chr392598739260032E072-27112
chr392600849260173E072-26971
chr392647469264873E072-22271
chr392652949265961E072-21183
chr392663269266515E072-20629
chr392665689266628E072-20516
chr392666559266838E072-20306
chr392671069267250E072-19894
chr392674959267547E072-19597
chr392679979268346E072-18798
chr392683849268612E072-18532
chr392722639272332E072-14812
chr392724529272525E072-14619
chr392725779273103E072-14041
chr392732549274003E072-13141
chr392748879275055E072-12089
chr392760439276142E072-11002
chr392762169276323E072-10821
chr392767339276791E072-10353
chr392816259281704E072-5440
chr392920449292154E0724900
chr393216009321656E07234456
chr393217119321971E07234567
chr393229139323002E07235769
chr392403929240467E073-46677
chr392413259241592E073-45552
chr392416759241794E073-45350
chr392425279242636E073-44508
chr392426569242804E073-44340
chr392430229243242E073-43902
chr392432679243550E073-43594
chr392437239244063E073-43081
chr392448489244898E073-42246
chr392457499245811E073-41333
chr392459599246695E073-40449
chr392549899255276E073-31868
chr392553379255387E073-31757
chr392596809259724E073-27420
chr392652949265961E073-21183
chr392663269266515E073-20629
chr392665689266628E073-20516
chr392666559266838E073-20306
chr392671069267250E073-19894
chr392674959267547E073-19597
chr392679979268346E073-18798
chr392683849268612E073-18532
chr392687929268863E073-18281
chr392732549274003E073-13141
chr392760439276142E073-11002
chr392762169276323E073-10821
chr392810019281055E073-6089
chr392813099281379E073-5765
chr392814699281585E073-5559
chr392816259281704E073-5440
chr392817419281815E073-5329
chr392818989282050E073-5094
chr392829409283150E073-3994
chr393217119321971E07334567
chr393220379322860E07334893
chr392413259241592E074-45552
chr392416759241794E074-45350
chr392425279242636E074-44508
chr392426569242804E074-44340
chr392430229243242E074-43902
chr392432679243550E074-43594
chr392437239244063E074-43081
chr392448489244898E074-42246
chr392457499245811E074-41333
chr392459599246695E074-40449
chr392475979247658E074-39486
chr392548469254918E074-32226
chr392549899255276E074-31868
chr392553379255387E074-31757
chr392652949265961E074-21183
chr392663269266515E074-20629
chr392665689266628E074-20516
chr392666559266838E074-20306
chr392671069267250E074-19894
chr392674959267547E074-19597
chr392725779273103E074-14041
chr392732549274003E074-13141
chr392760439276142E074-11002
chr392762169276323E074-10821
chr392767339276791E074-10353
chr392800849280220E074-6924
chr392803229280429E074-6715
chr392804899280546E074-6598
chr392810019281055E074-6089
chr392813099281379E074-5765
chr392814699281585E074-5559
chr392816259281704E074-5440
chr392817419281815E074-5329
chr392818989282050E074-5094
chr392861779286631E074-513
chr392876669287746E074522
chr392879909288224E074846
chr392920449292154E0744900
chr392923969292446E0745252
chr393216009321656E07434456
chr393217119321971E07434567
chr392377399238105E081-49039
chr392403929240467E081-46677
chr392405309240976E081-46168
chr392413259241592E081-45552
chr392416759241794E081-45350
chr392425279242636E081-44508
chr392426569242804E081-44340
chr392448489244898E081-42246
chr392457499245811E081-41333
chr392459599246695E081-40449
chr392584759258619E081-28525
chr392586239258729E081-28415
chr392596809259724E081-27420
chr392598739260032E081-27112
chr392652949265961E081-21183
chr392663269266515E081-20629
chr392665689266628E081-20516
chr392666559266838E081-20306
chr392671069267250E081-19894
chr392674959267547E081-19597
chr392683849268612E081-18532
chr392687929268863E081-18281
chr392722639272332E081-14812
chr392724529272525E081-14619
chr392725779273103E081-14041
chr392732549274003E081-13141
chr392748879275055E081-12089
chr392755899275732E081-11412
chr392760439276142E081-11002
chr392762169276323E081-10821
chr392767339276791E081-10353
chr392800849280220E081-6924
chr392803229280429E081-6715
chr392804899280546E081-6598
chr392810019281055E081-6089
chr392813099281379E081-5765
chr392814699281585E081-5559
chr392816259281704E081-5440
chr392817419281815E081-5329
chr392818989282050E081-5094
chr392829409283150E081-3994
chr392833449283426E081-3718
chr392848479284897E081-2247
chr392919659292030E0814821
chr392920449292154E0814900
chr392923969292446E0815252
chr393216009321656E08134456
chr393217119321971E08134567
chr393220379322860E08134893
chr393229139323002E08135769
chr392403929240467E082-46677
chr392413259241592E082-45552
chr392416759241794E082-45350
chr392425279242636E082-44508
chr392426569242804E082-44340
chr392430229243242E082-43902
chr392432679243550E082-43594
chr392437239244063E082-43081
chr392448489244898E082-42246
chr392457499245811E082-41333
chr392548469254918E082-32226
chr392549899255276E082-31868
chr392553379255387E082-31757
chr392560069256281E082-30863
chr392563459256706E082-30438
chr392598739260032E082-27112
chr392600849260173E082-26971
chr392652949265961E082-21183
chr392663269266515E082-20629
chr392665689266628E082-20516
chr392666559266838E082-20306
chr392679979268346E082-18798
chr392683849268612E082-18532
chr392687929268863E082-18281
chr392715549271635E082-15509
chr392722639272332E082-14812
chr392724529272525E082-14619
chr392748879275055E082-12089
chr392755899275732E082-11412
chr392760439276142E082-11002
chr392762169276323E082-10821
chr392767339276791E082-10353
chr392800849280220E082-6924
chr392803229280429E082-6715
chr392804899280546E082-6598
chr392810019281055E082-6089
chr392813099281379E082-5765
chr392814699281585E082-5559
chr392816259281704E082-5440
chr392817419281815E082-5329
chr392818989282050E082-5094
chr392848479284897E082-2247
chr392920449292154E0824900
chr392923969292446E0825252
chr393216009321656E08234456
chr393217119321971E08234567
chr393229139323002E08235769










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr392875569287596E067412
chr392886569288792E0671512
chr392891439291798E0671999
chr392891439291798E0681999
chr392875569287596E069412
chr392886569288792E0691512
chr392891439291798E0691999
chr392886569288792E0701512
chr392891439291798E0701999
chr392886569288792E0711512
chr392891439291798E0711999
chr392875569287596E072412
chr392886569288792E0721512
chr392891439291798E0721999
chr392875569287596E073412
chr392886569288792E0731512
chr392891439291798E0731999
chr392891439291798E0741999
chr392886569288792E0811512
chr392891439291798E0811999
chr392875569287596E082412
chr392886569288792E0821512
chr392891439291798E0821999