rs7819949

Homo sapiens
C>T
GINS4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0377 (11298/29948,GnomAD)
T=0401 (11695/29118,TOPMED)
T=0405 (2027/5008,1000G)
T=0316 (1216/3854,ALSPAC)
T=0314 (1166/3708,TWINSUK)
chr8:41530402 (GRCh38.p7) (8p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
201 Enhancers around
33 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.41530402C>T
GRCh37.p13 chr 8NC_000008.10:g.41387921C>T

Gene: GINS4, GINS complex subunit 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GINS4 transcriptNM_032336.2:c.N/AIntron Variant
GINS4 transcript variant X1XM_005273659.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.446T=0.554
1000GenomesAmericanSub694C=0.640T=0.360
1000GenomesEast AsianSub1008C=0.627T=0.373
1000GenomesEuropeSub1006C=0.654T=0.346
1000GenomesGlobalStudy-wide5008C=0.595T=0.405
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.684T=0.316
The Genome Aggregation DatabaseAfricanSub8714C=0.514T=0.486
The Genome Aggregation DatabaseAmericanSub838C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1614C=0.603T=0.397
The Genome Aggregation DatabaseEuropeSub18480C=0.674T=0.325
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.622T=0.377
The Genome Aggregation DatabaseOtherSub302C=0.580T=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.598T=0.401
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.686T=0.314
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs78199490.00013alcohol dependence(early age of onset)20201924
rs78199490.00014alcohol dependence20201924

eQTL of rs7819949 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 rs7819949 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 )
chr84134237541342562E067-45359
chr84134269541342976E067-44945
chr84134326841343449E067-44472
chr84134983141349979E067-37942
chr84135039841350492E067-37429
chr84135054441350594E067-37327
chr84135119841351265E067-36656
chr84135142041351487E067-36434
chr84135729941357481E067-30440
chr84135975441360194E067-27727
chr84136267841362739E067-25182
chr84136275141363428E067-24493
chr84136345241363553E067-24368
chr84136362741363687E067-24234
chr84136377341364005E067-23916
chr84136416441364214E067-23707
chr84136432541364379E067-23542
chr84136498241365121E067-22800
chr84136515241366454E067-21467
chr84136685341366907E067-21014
chr84136915041369229E067-18692
chr84136923041369293E067-18628
chr84136930241369598E067-18323
chr84136960041369703E067-18218
chr84136975241369940E067-17981
chr84138787441387927E0670
chr84138794841388024E06727
chr84140015941401203E06712238
chr84143741341437472E06749492
chr84143750241437631E06749581
chr84143769541437852E06749774
chr84143787241437913E06749951
chr84134237541342562E068-45359
chr84134269541342976E068-44945
chr84134326841343449E068-44472
chr84134983141349979E068-37942
chr84135101741351057E068-36864
chr84135119841351265E068-36656
chr84135729941357481E068-30440
chr84135975441360194E068-27727
chr84136267841362739E068-25182
chr84136275141363428E068-24493
chr84136345241363553E068-24368
chr84136362741363687E068-24234
chr84136377341364005E068-23916
chr84136416441364214E068-23707
chr84136432541364379E068-23542
chr84136498241365121E068-22800
chr84136515241366454E068-21467
chr84136685341366907E068-21014
chr84136721741367282E068-20639
chr84136736641367447E068-20474
chr84136915041369229E068-18692
chr84136923041369293E068-18628
chr84136930241369598E068-18323
chr84136960041369703E068-18218
chr84136975241369940E068-17981
chr84143741341437472E06849492
chr84143750241437631E06849581
chr84143769541437852E06849774
chr84134237541342562E069-45359
chr84134269541342976E069-44945
chr84135729941357481E069-30440
chr84135975441360194E069-27727
chr84136267841362739E069-25182
chr84136275141363428E069-24493
chr84136345241363553E069-24368
chr84136362741363687E069-24234
chr84136377341364005E069-23916
chr84136416441364214E069-23707
chr84136432541364379E069-23542
chr84136498241365121E069-22800
chr84136515241366454E069-21467
chr84136685341366907E069-21014
chr84136721741367282E069-20639
chr84136736641367447E069-20474
chr84136879341368843E069-19078
chr84136915041369229E069-18692
chr84136923041369293E069-18628
chr84136930241369598E069-18323
chr84136960041369703E069-18218
chr84136975241369940E069-17981
chr84134237541342562E070-45359
chr84134269541342976E070-44945
chr84135080941350859E070-37062
chr84135168541351797E070-36124
chr84136275141363428E070-24493
chr84136345241363553E070-24368
chr84136362741363687E070-24234
chr84136377341364005E070-23916
chr84139887441398965E07010953
chr84143741341437472E07049492
chr84143750241437631E07049581
chr84143769541437852E07049774
chr84143787241437913E07049951
chr84134237541342562E071-45359
chr84134269541342976E071-44945
chr84134326841343449E071-44472
chr84134375341343839E071-44082
chr84134697441347203E071-40718
chr84134983141349979E071-37942
chr84135039841350492E071-37429
chr84135054441350594E071-37327
chr84135080941350859E071-37062
chr84135101741351057E071-36864
chr84135119841351265E071-36656
chr84135729941357481E071-30440
chr84136267841362739E071-25182
chr84136275141363428E071-24493
chr84136345241363553E071-24368
chr84136362741363687E071-24234
chr84136377341364005E071-23916
chr84136416441364214E071-23707
chr84136432541364379E071-23542
chr84136498241365121E071-22800
chr84136515241366454E071-21467
chr84136685341366907E071-21014
chr84136721741367282E071-20639
chr84136736641367447E071-20474
chr84136879341368843E071-19078
chr84136915041369229E071-18692
chr84136923041369293E071-18628
chr84136930241369598E071-18323
chr84136960041369703E071-18218
chr84136975241369940E071-17981
chr84140015941401203E07112238
chr84143741341437472E07149492
chr84143750241437631E07149581
chr84143769541437852E07149774
chr84143787241437913E07149951
chr84134237541342562E072-45359
chr84134326841343449E072-44472
chr84134697441347203E072-40718
chr84134983141349979E072-37942
chr84135729941357481E072-30440
chr84135975441360194E072-27727
chr84136345241363553E072-24368
chr84136362741363687E072-24234
chr84136377341364005E072-23916
chr84136416441364214E072-23707
chr84136432541364379E072-23542
chr84136498241365121E072-22800
chr84136515241366454E072-21467
chr84136685341366907E072-21014
chr84136879341368843E072-19078
chr84136915041369229E072-18692
chr84136923041369293E072-18628
chr84136930241369598E072-18323
chr84136960041369703E072-18218
chr84136975241369940E072-17981
chr84143741341437472E07249492
chr84143750241437631E07249581
chr84134269541342976E073-44945
chr84134326841343449E073-44472
chr84135729941357481E073-30440
chr84136515241366454E073-21467
chr84136685341366907E073-21014
chr84136721741367282E073-20639
chr84136960041369703E073-18218
chr84136975241369940E073-17981
chr84140015941401203E07312238
chr84143741341437472E07349492
chr84143750241437631E07349581
chr84134237541342562E074-45359
chr84134269541342976E074-44945
chr84134326841343449E074-44472
chr84134697441347203E074-40718
chr84134983141349979E074-37942
chr84135729941357481E074-30440
chr84135975441360194E074-27727
chr84136275141363428E074-24493
chr84136345241363553E074-24368
chr84136362741363687E074-24234
chr84136377341364005E074-23916
chr84136416441364214E074-23707
chr84136432541364379E074-23542
chr84136498241365121E074-22800
chr84136515241366454E074-21467
chr84136685341366907E074-21014
chr84136721741367282E074-20639
chr84136736641367447E074-20474
chr84136915041369229E074-18692
chr84136930241369598E074-18323
chr84136960041369703E074-18218
chr84136975241369940E074-17981
chr84140015941401203E07412238
chr84134983141349979E081-37942
chr84140015941401203E08112238
chr84143741341437472E08149492
chr84143750241437631E08149581
chr84143769541437852E08149774
chr84143787241437913E08149951
chr84134983141349979E082-37942
chr84135039841350492E082-37429
chr84135054441350594E082-37327
chr84138787441387927E0820
chr84138794841388024E08227
chr84143741341437472E08249492
chr84143750241437631E08249581
chr84143769541437852E08249774
chr84143787241437913E08249951










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr84134730041349150E067-38771
chr84138581841387164E067-757
chr84143471241437117E06746791
chr84134730041349150E068-38771
chr84138581841387164E068-757
chr84142421541425725E06836294
chr84143471241437117E06846791
chr84134730041349150E069-38771
chr84138581841387164E069-757
chr84143471241437117E06946791
chr84134730041349150E070-38771
chr84138581841387164E070-757
chr84143471241437117E07046791
chr84134730041349150E071-38771
chr84138581841387164E071-757
chr84142421541425725E07136294
chr84143471241437117E07146791
chr84134730041349150E072-38771
chr84138581841387164E072-757
chr84143471241437117E07246791
chr84134730041349150E073-38771
chr84138581841387164E073-757
chr84142421541425725E07336294
chr84143471241437117E07346791
chr84134730041349150E074-38771
chr84138581841387164E074-757
chr84142421541425725E07436294
chr84143471241437117E07446791
chr84134730041349150E081-38771
chr84143471241437117E08146791
chr84134730041349150E082-38771
chr84138581841387164E082-757
chr84143471241437117E08246791