rs6088664

Homo sapiens
G>A
MYH7B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0362 (10871/29952,GnomAD)
G==0347 (10110/29118,TOPMED)
G==0384 (1924/5008,1000G)
G==0410 (1580/3854,ALSPAC)
G==0409 (1516/3708,TWINSUK)
chr20:34963297 (GRCh38.p7) (20q11.22)
AD
GWASdb2
1   publication(s)
See rs on genome
217 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.34963297G>A
GRCh37.p13 chr 20NC_000020.10:g.33551100G>A
MYH7B RefSeqGeneNG_016984.2:g.12397G>A

Gene: MYH7B, myosin, heavy chain 7B, cardiac muscle, beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MYH7B transcriptNM_020884.4:c.N/AIntron Variant
MYH7B transcript variant X3XM_006723840.3:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X2XM_011528941.2:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X4XM_011528947.2:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X5XM_011528948.2:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X1XM_017027986.1:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X4XM_017027987.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.157A=0.843
1000GenomesAmericanSub694G=0.610A=0.390
1000GenomesEast AsianSub1008G=0.551A=0.449
1000GenomesEuropeSub1006G=0.455A=0.545
1000GenomesGlobalStudy-wide5008G=0.384A=0.616
1000GenomesSouth AsianSub978G=0.280A=0.720
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.410A=0.590
The Genome Aggregation DatabaseAfricanSub8718G=0.216A=0.784
The Genome Aggregation DatabaseAmericanSub838G=0.680A=0.320
The Genome Aggregation DatabaseEast AsianSub1612G=0.522A=0.478
The Genome Aggregation DatabaseEuropeSub18482G=0.402A=0.597
The Genome Aggregation DatabaseGlobalStudy-wide29952G=0.362A=0.637
The Genome Aggregation DatabaseOtherSub302G=0.420A=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.347A=0.652
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.409A=0.591
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs60886643.23E-06alcohol dependence23089632

eQTL of rs6088664 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr20:33551100MAP1LC3AENSG00000101460.8G>A7.8389e-21416442Cerebellum
Chr20:33551100ACSS2ENSG00000131069.15G>A9.5705e-891151Cerebellum
Chr20:33551100ACSS2ENSG00000131069.15G>A6.5729e-491151Cerebellar_Hemisphere
Chr20:33551100ACSS2ENSG00000131069.15G>A4.4982e-591151Caudate_basal_ganglia
Chr20:33551100MAP1LC3AENSG00000101460.8G>A5.4946e-5416442Anterior_cingulate_cortex

meQTL of rs6088664 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 )
chr203352618833526671E067-24429
chr203355694533557105E0675845
chr203355711733557334E0676017
chr203355763333557813E0676533
chr203355791433557995E0676814
chr203355827133558553E0677171
chr203355862533558685E0677525
chr203355879233558897E0677692
chr203355899633559085E0677896
chr203355914833559270E0678048
chr203355928433559569E0678184
chr203356560233566741E06714502
chr203356875133569101E06717651
chr203357428733574444E06723187
chr203357469833574827E06723598
chr203357494333575137E06723843
chr203357516333575223E06724063
chr203357522433575314E06724124
chr203357537633576539E06724276
chr203358442433584570E06733324
chr203358574833585818E06734648
chr203358584633585924E06734746
chr203358594033586168E06734840
chr203360042433600512E06749324
chr203360057133600641E06749471
chr203360067733600727E06749577
chr203360080733600857E06749707
chr203352601833526133E068-24967
chr203352618833526671E068-24429
chr203354837333548963E068-2137
chr203355763333557813E0686533
chr203355791433557995E0686814
chr203355827133558553E0687171
chr203355862533558685E0687525
chr203355879233558897E0687692
chr203355899633559085E0687896
chr203355914833559270E0688048
chr203356560233566741E06814502
chr203357516333575223E06824063
chr203357522433575314E06824124
chr203357537633576539E06824276
chr203358498933585740E06833889
chr203358574833585818E06834648
chr203358584633585924E06834746
chr203358594033586168E06834840
chr203354837333548963E069-2137
chr203355589333556501E0694793
chr203355659333556882E0695493
chr203355694533557105E0695845
chr203355711733557334E0696017
chr203355763333557813E0696533
chr203355791433557995E0696814
chr203355827133558553E0697171
chr203355862533558685E0697525
chr203355879233558897E0697692
chr203355899633559085E0697896
chr203355914833559270E0698048
chr203355928433559569E0698184
chr203355980333560117E0698703
chr203356493433565506E06913834
chr203356560233566741E06914502
chr203356862333568722E06917523
chr203356875133569101E06917651
chr203357356833573765E06922468
chr203357379833573914E06922698
chr203357428733574444E06923187
chr203357469833574827E06923598
chr203357494333575137E06923843
chr203357516333575223E06924063
chr203357522433575314E06924124
chr203357537633576539E06924276
chr203358574833585818E06934648
chr203358584633585924E06934746
chr203358594033586168E06934840
chr203360080733600857E06949707
chr203352618833526671E070-24429
chr203354468533544774E070-6326
chr203352618833526671E071-24429
chr203354837333548963E071-2137
chr203355694533557105E0715845
chr203355711733557334E0716017
chr203355763333557813E0716533
chr203355791433557995E0716814
chr203355827133558553E0717171
chr203355862533558685E0717525
chr203355879233558897E0717692
chr203355899633559085E0717896
chr203355914833559270E0718048
chr203355928433559569E0718184
chr203355980333560117E0718703
chr203356493433565506E07113834
chr203356560233566741E07114502
chr203356862333568722E07117523
chr203356875133569101E07117651
chr203357250333572746E07121403
chr203357279833572878E07121698
chr203357288133573564E07121781
chr203357428733574444E07123187
chr203357469833574827E07123598
chr203357494333575137E07123843
chr203357516333575223E07124063
chr203357522433575314E07124124
chr203357537633576539E07124276
chr203358574833585818E07134648
chr203358584633585924E07134746
chr203358594033586168E07134840
chr203360009533600308E07148995
chr203360042433600512E07149324
chr203360057133600641E07149471
chr203360067733600727E07149577
chr203360080733600857E07149707
chr203354837333548963E072-2137
chr203355659333556882E0725493
chr203355694533557105E0725845
chr203355711733557334E0726017
chr203355763333557813E0726533
chr203355791433557995E0726814
chr203355827133558553E0727171
chr203355862533558685E0727525
chr203355879233558897E0727692
chr203355899633559085E0727896
chr203355914833559270E0728048
chr203355928433559569E0728184
chr203355980333560117E0728703
chr203356051233560578E0729412
chr203356100933561089E0729909
chr203356110533561199E07210005
chr203356385533564420E07212755
chr203356444633564547E07213346
chr203356493433565506E07213834
chr203356560233566741E07214502
chr203356862333568722E07217523
chr203356875133569101E07217651
chr203357250333572746E07221403
chr203357279833572878E07221698
chr203357288133573564E07221781
chr203357356833573765E07222468
chr203357379833573914E07222698
chr203357428733574444E07223187
chr203357469833574827E07223598
chr203357494333575137E07223843
chr203357516333575223E07224063
chr203357522433575314E07224124
chr203357537633576539E07224276
chr203358462633584938E07233526
chr203358574833585818E07234648
chr203358584633585924E07234746
chr203358594033586168E07234840
chr203359946733600060E07248367
chr203360009533600308E07248995
chr203360042433600512E07249324
chr203360057133600641E07249471
chr203360067733600727E07249577
chr203360080733600857E07249707
chr203354468533544774E073-6326
chr203354481333545129E073-5971
chr203355763333557813E0736533
chr203355791433557995E0736814
chr203355827133558553E0737171
chr203355862533558685E0737525
chr203355879233558897E0737692
chr203355899633559085E0737896
chr203355914833559270E0738048
chr203356560233566741E07314502
chr203357469833574827E07323598
chr203357494333575137E07323843
chr203357516333575223E07324063
chr203357522433575314E07324124
chr203357537633576539E07324276
chr203358399433584092E07332894
chr203358418533584229E07333085
chr203358433333584394E07333233
chr203358442433584570E07333324
chr203358462633584938E07333526
chr203358498933585740E07333889
chr203358574833585818E07334648
chr203358584633585924E07334746
chr203358594033586168E07334840
chr203359946733600060E07348367
chr203360009533600308E07348995
chr203360042433600512E07349324
chr203360057133600641E07349471
chr203360067733600727E07349577
chr203352618833526671E074-24429
chr203354468533544774E074-6326
chr203354481333545129E074-5971
chr203354514833545266E074-5834
chr203354837333548963E074-2137
chr203355659333556882E0745493
chr203355694533557105E0745845
chr203355711733557334E0746017
chr203355763333557813E0746533
chr203355791433557995E0746814
chr203355827133558553E0747171
chr203355862533558685E0747525
chr203355879233558897E0747692
chr203355899633559085E0747896
chr203355914833559270E0748048
chr203355928433559569E0748184
chr203356493433565506E07413834
chr203356560233566741E07414502
chr203356862333568722E07417523
chr203356875133569101E07417651
chr203357124233571371E07420142
chr203357428733574444E07423187
chr203357469833574827E07423598
chr203357494333575137E07423843
chr203357516333575223E07424063
chr203357522433575314E07424124
chr203357537633576539E07424276
chr203359946733600060E07448367
chr203360009533600308E07448995
chr203360042433600512E07449324
chr203360057133600641E07449471
chr203360067733600727E07449577
chr203360080733600857E07449707
chr203358498933585740E08133889









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr203354243133544582E067-6518
chr203354243133544582E068-6518
chr203354243133544582E069-6518
chr203354243133544582E070-6518
chr203354243133544582E071-6518
chr203354243133544582E072-6518
chr203354243133544582E073-6518
chr203354243133544582E074-6518
chr203354243133544582E081-6518
chr203354243133544582E082-6518