rs6771896

Homo sapiens
G>A
ITGB5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0195 (5831/29910,GnomAD)
A=0196 (5708/29118,TOPMED)
A=0220 (1102/5008,1000G)
A=0195 (752/3854,ALSPAC)
A=0195 (723/3708,TWINSUK)
chr3:124826903 (GRCh38.p7) (3q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
264 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.124826903G>A
GRCh37.p13 chr 3NC_000003.11:g.124545750G>A

Gene: ITGB5, integrin subunit beta 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ITGB5 transcript variant 1NM_002213.4:c.N/AIntron Variant
ITGB5 transcript variant X1XM_005247436.2:c.N/AIntron Variant
ITGB5 transcript variant X2XM_006713630.2:c.N/AIntron Variant
ITGB5 transcript variant X3XM_017006351.1:c.N/AIntron Variant
ITGB5 transcript variant X4XM_017006352.1:c.N/AIntron Variant
ITGB5 transcript variant X3XM_017006353.1:c.N/AIntron Variant
ITGB5 transcript variant X6XM_017006354.1:c.N/AIntron Variant
ITGB5 transcript variant X5XM_017006355.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.796A=0.204
1000GenomesAmericanSub694G=0.680A=0.320
1000GenomesEast AsianSub1008G=0.794A=0.206
1000GenomesEuropeSub1006G=0.822A=0.178
1000GenomesGlobalStudy-wide5008G=0.780A=0.220
1000GenomesSouth AsianSub978G=0.770A=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.805A=0.195
The Genome Aggregation DatabaseAfricanSub8704G=0.812A=0.188
The Genome Aggregation DatabaseAmericanSub838G=0.690A=0.310
The Genome Aggregation DatabaseEast AsianSub1614G=0.766A=0.234
The Genome Aggregation DatabaseEuropeSub18452G=0.808A=0.191
The Genome Aggregation DatabaseGlobalStudy-wide29910G=0.805A=0.195
The Genome Aggregation DatabaseOtherSub302G=0.940A=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.804A=0.196
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.805A=0.195
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs67718960.000363alcohol dependence24277619

eQTL of rs6771896 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:124545750RP11-71H17.9ENSG00000272947.1G>A1.0669e-678328Cortex
Chr3:124545750RP11-71H17.9ENSG00000272947.1G>A5.8157e-478328Hippocampus
Chr3:124545750RP11-71H17.9ENSG00000272947.1G>A4.1989e-578328Amygdala

meQTL of rs6771896 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 )
chr3124498742124498909E067-46841
chr3124499051124500800E067-44950
chr3124501195124501434E067-44316
chr3124504541124504603E067-41147
chr3124504702124504779E067-40971
chr3124504948124505073E067-40677
chr3124505124124506697E067-39053
chr3124507053124507385E067-38365
chr3124518459124518617E067-27133
chr3124519008124520192E067-25558
chr3124520965124521297E067-24453
chr3124521423124521485E067-24265
chr3124521551124521611E067-24139
chr3124521768124521860E067-23890
chr3124522103124522174E067-23576
chr3124522308124522402E067-23348
chr3124530381124530644E067-15106
chr3124531081124532198E067-13552
chr3124532351124532401E067-13349
chr3124537399124537994E067-7756
chr3124538137124538211E067-7539
chr3124545442124546105E0670
chr3124555449124555499E0679699
chr3124555734124555881E0679984
chr3124556071124556144E06710321
chr3124564202124564833E06718452
chr3124564860124565034E06719110
chr3124565112124565279E06719362
chr3124498387124498681E068-47069
chr3124498742124498909E068-46841
chr3124502622124502817E068-42933
chr3124502982124503144E068-42606
chr3124503581124503866E068-41884
chr3124503916124504081E068-41669
chr3124504541124504603E068-41147
chr3124504702124504779E068-40971
chr3124504948124505073E068-40677
chr3124505124124506697E068-39053
chr3124507053124507385E068-38365
chr3124509397124509447E068-36303
chr3124509841124510003E068-35747
chr3124510071124511101E068-34649
chr3124519008124520192E068-25558
chr3124520965124521297E068-24453
chr3124521423124521485E068-24265
chr3124521551124521611E068-24139
chr3124521768124521860E068-23890
chr3124522103124522174E068-23576
chr3124522308124522402E068-23348
chr3124531081124532198E068-13552
chr3124532351124532401E068-13349
chr3124532402124532503E068-13247
chr3124532507124532620E068-13130
chr3124545442124546105E0680
chr3124553505124554946E0687755
chr3124555205124555255E0689455
chr3124556071124556144E06810321
chr3124556290124557029E06810540
chr3124564202124564833E06818452
chr3124564860124565034E06819110
chr3124565112124565279E06819362
chr3124565331124565422E06819581
chr3124579340124580284E06833590
chr3124592209124592471E06846459
chr3124498387124498681E069-47069
chr3124498742124498909E069-46841
chr3124499051124500800E069-44950
chr3124502359124502424E069-43326
chr3124502622124502817E069-42933
chr3124502982124503144E069-42606
chr3124504948124505073E069-40677
chr3124505124124506697E069-39053
chr3124507053124507385E069-38365
chr3124509841124510003E069-35747
chr3124510071124511101E069-34649
chr3124519008124520192E069-25558
chr3124520965124521297E069-24453
chr3124521423124521485E069-24265
chr3124521551124521611E069-24139
chr3124521768124521860E069-23890
chr3124522103124522174E069-23576
chr3124522308124522402E069-23348
chr3124537399124537994E069-7756
chr3124538137124538211E069-7539
chr3124545442124546105E0690
chr3124555449124555499E0699699
chr3124555734124555881E0699984
chr3124556071124556144E06910321
chr3124556290124557029E06910540
chr3124564202124564833E06918452
chr3124564860124565034E06919110
chr3124565112124565279E06919362
chr3124571009124571069E06925259
chr3124581175124581248E06935425
chr3124496812124496891E070-48859
chr3124496903124496973E070-48777
chr3124497030124497238E070-48512
chr3124497249124497328E070-48422
chr3124519008124520192E070-25558
chr3124498387124498681E071-47069
chr3124498742124498909E071-46841
chr3124499051124500800E071-44950
chr3124501195124501434E071-44316
chr3124502005124502103E071-43647
chr3124502177124502329E071-43421
chr3124502359124502424E071-43326
chr3124502622124502817E071-42933
chr3124502982124503144E071-42606
chr3124503581124503866E071-41884
chr3124503916124504081E071-41669
chr3124504541124504603E071-41147
chr3124504702124504779E071-40971
chr3124504948124505073E071-40677
chr3124505124124506697E071-39053
chr3124507053124507385E071-38365
chr3124509397124509447E071-36303
chr3124509841124510003E071-35747
chr3124510071124511101E071-34649
chr3124519008124520192E071-25558
chr3124520965124521297E071-24453
chr3124521423124521485E071-24265
chr3124521551124521611E071-24139
chr3124521768124521860E071-23890
chr3124522103124522174E071-23576
chr3124522308124522402E071-23348
chr3124531081124532198E071-13552
chr3124532351124532401E071-13349
chr3124532402124532503E071-13247
chr3124532507124532620E071-13130
chr3124532658124532712E071-13038
chr3124532735124532785E071-12965
chr3124534500124534580E071-11170
chr3124534835124534885E071-10865
chr3124535155124535216E071-10534
chr3124537399124537994E071-7756
chr3124538137124538211E071-7539
chr3124545442124546105E0710
chr3124553505124554946E0717755
chr3124555205124555255E0719455
chr3124555449124555499E0719699
chr3124555734124555881E0719984
chr3124556071124556144E07110321
chr3124556290124557029E07110540
chr3124564202124564833E07118452
chr3124564860124565034E07119110
chr3124565112124565279E07119362
chr3124581175124581248E07135425
chr3124592209124592471E07146459
chr3124595417124595737E07149667
chr3124499051124500800E072-44950
chr3124501195124501434E072-44316
chr3124502622124502817E072-42933
chr3124502982124503144E072-42606
chr3124504541124504603E072-41147
chr3124504702124504779E072-40971
chr3124504948124505073E072-40677
chr3124505124124506697E072-39053
chr3124507053124507385E072-38365
chr3124509841124510003E072-35747
chr3124510071124511101E072-34649
chr3124519008124520192E072-25558
chr3124520965124521297E072-24453
chr3124521423124521485E072-24265
chr3124521551124521611E072-24139
chr3124521768124521860E072-23890
chr3124522103124522174E072-23576
chr3124522308124522402E072-23348
chr3124532351124532401E072-13349
chr3124532402124532503E072-13247
chr3124532507124532620E072-13130
chr3124537399124537994E072-7756
chr3124545442124546105E0720
chr3124548229124548375E0722479
chr3124553505124554946E0727755
chr3124556290124557029E07210540
chr3124564202124564833E07218452
chr3124570096124570390E07224346
chr3124570715124570853E07224965
chr3124571009124571069E07225259
chr3124595252124595403E07249502
chr3124595417124595737E07249667
chr3124498387124498681E073-47069
chr3124498742124498909E073-46841
chr3124499051124500800E073-44950
chr3124502622124502817E073-42933
chr3124502982124503144E073-42606
chr3124504948124505073E073-40677
chr3124505124124506697E073-39053
chr3124507053124507385E073-38365
chr3124519008124520192E073-25558
chr3124520965124521297E073-24453
chr3124521423124521485E073-24265
chr3124521551124521611E073-24139
chr3124521768124521860E073-23890
chr3124522103124522174E073-23576
chr3124522308124522402E073-23348
chr3124529916124530086E073-15664
chr3124531081124532198E073-13552
chr3124532351124532401E073-13349
chr3124532402124532503E073-13247
chr3124532507124532620E073-13130
chr3124553505124554946E0737755
chr3124556071124556144E07310321
chr3124556290124557029E07310540
chr3124498742124498909E074-46841
chr3124499051124500800E074-44950
chr3124501195124501434E074-44316
chr3124502622124502817E074-42933
chr3124502982124503144E074-42606
chr3124503581124503866E074-41884
chr3124503916124504081E074-41669
chr3124504541124504603E074-41147
chr3124504702124504779E074-40971
chr3124504948124505073E074-40677
chr3124505124124506697E074-39053
chr3124507053124507385E074-38365
chr3124507436124507561E074-38189
chr3124509397124509447E074-36303
chr3124509841124510003E074-35747
chr3124510071124511101E074-34649
chr3124516413124516500E074-29250
chr3124516547124516597E074-29153
chr3124520965124521297E074-24453
chr3124521423124521485E074-24265
chr3124521551124521611E074-24139
chr3124521768124521860E074-23890
chr3124522103124522174E074-23576
chr3124522308124522402E074-23348
chr3124531081124532198E074-13552
chr3124532351124532401E074-13349
chr3124532402124532503E074-13247
chr3124532507124532620E074-13130
chr3124532658124532712E074-13038
chr3124532735124532785E074-12965
chr3124534500124534580E074-11170
chr3124534835124534885E074-10865
chr3124535155124535216E074-10534
chr3124537399124537994E074-7756
chr3124545442124546105E0740
chr3124550694124550949E0744944
chr3124551036124551156E0745286
chr3124551497124551606E0745747
chr3124551753124551904E0746003
chr3124551931124552133E0746181
chr3124552212124552288E0746462
chr3124553505124554946E0747755
chr3124555205124555255E0749455
chr3124555449124555499E0749699
chr3124555734124555881E0749984
chr3124556071124556144E07410321
chr3124556290124557029E07410540
chr3124564202124564833E07418452
chr3124564860124565034E07419110
chr3124565112124565279E07419362
chr3124565331124565422E07419581
chr3124498387124498681E081-47069
chr3124498742124498909E081-46841
chr3124499051124500800E081-44950
chr3124530381124530644E081-15106
chr3124531081124532198E081-13552
chr3124532351124532401E081-13349
chr3124532507124532620E081-13130
chr3124516413124516500E082-29250
chr3124516547124516597E082-29153