rs11845379

Homo sapiens
T>C
SAMD4A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0316 (9453/29904,GnomAD)
C=0319 (9304/29118,TOPMED)
C=0356 (1782/5008,1000G)
C=0227 (873/3854,ALSPAC)
C=0228 (844/3708,TWINSUK)
chr14:54727746 (GRCh38.p7) (14q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
172 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.54727746T>C
GRCh37.p13 chr 14NC_000014.8:g.55194464T>C

Gene: SAMD4A, sterile alpha motif domain containing 4A(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SAMD4A transcript variant 2NM_001161576.2:c.N/AIntron Variant
SAMD4A transcript variant 1NM_015589.5:c.N/AIntron Variant
SAMD4A transcript variant 3NM_001161577.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.471C=0.529
1000GenomesAmericanSub694T=0.720C=0.280
1000GenomesEast AsianSub1008T=0.582C=0.418
1000GenomesEuropeSub1006T=0.797C=0.203
1000GenomesGlobalStudy-wide5008T=0.644C=0.356
1000GenomesSouth AsianSub978T=0.730C=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.773C=0.227
The Genome Aggregation DatabaseAfricanSub8696T=0.537C=0.463
The Genome Aggregation DatabaseAmericanSub838T=0.760C=0.240
The Genome Aggregation DatabaseEast AsianSub1610T=0.534C=0.466
The Genome Aggregation DatabaseEuropeSub18458T=0.760C=0.239
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.683C=0.316
The Genome Aggregation DatabaseOtherSub302T=0.810C=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.680C=0.319
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.772C=0.228
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs118453790.000849alcohol dependence21314694

eQTL of rs11845379 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 rs11845379 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 )
chr145515222555154829E067-39635
chr145517843555179818E067-14646
chr145517991555180024E067-14440
chr145518018755180438E067-14026
chr145520227855202374E0677814
chr145520247655202516E0678012
chr145520273355202783E0678269
chr145515043055151697E068-42767
chr145515197155152171E068-42293
chr145515222555154829E068-39635
chr145515722855159630E068-34834
chr145516504755165606E068-28858
chr145516565555165731E068-28733
chr145516582355166243E068-28221
chr145517434155174486E068-19978
chr145517456255174747E068-19717
chr145517493855175122E068-19342
chr145517843555179818E068-14646
chr145517991555180024E068-14440
chr145518257355182712E068-11752
chr145518271755182810E068-11654
chr145519682855197712E0682364
chr145520476455205045E06810300
chr145520504655205251E06810582
chr145521315355213216E06818689
chr145521356355213645E06819099
chr145521583655215906E06821372
chr145521602055216101E06821556
chr145521633755216387E06821873
chr145523041355230535E06835949
chr145514484155145116E069-49348
chr145515043055151697E069-42767
chr145515197155152171E069-42293
chr145515222555154829E069-39635
chr145515498255155334E069-39130
chr145517434155174486E069-19978
chr145517456255174747E069-19717
chr145517493855175122E069-19342
chr145517512655175299E069-19165
chr145517843555179818E069-14646
chr145517991555180024E069-14440
chr145518018755180438E069-14026
chr145520476455205045E06910300
chr145520504655205251E06910582
chr145521646155216515E06921997
chr145522473455224859E06930270
chr145523901655241158E06944552
chr145524281855243826E06948354
chr145514484155145116E070-49348
chr145514624655146286E070-48178
chr145515222555154829E070-39635
chr145515498255155334E070-39130
chr145516292255163298E070-31166
chr145516360055164362E070-30102
chr145518424955184529E070-9935
chr145518457755185449E070-9015
chr145519551455195610E0701050
chr145519570055196085E0701236
chr145523593755236216E07041473
chr145523629155236656E07041827
chr145524249255242578E07048028
chr145524258155242714E07048117
chr145524281855243826E07048354
chr145524394655244194E07049482
chr145514484155145116E071-49348
chr145515043055151697E071-42767
chr145515197155152171E071-42293
chr145516504755165606E071-28858
chr145516565555165731E071-28733
chr145516582355166243E071-28221
chr145517456255174747E071-19717
chr145517493855175122E071-19342
chr145517512655175299E071-19165
chr145517843555179818E071-14646
chr145517991555180024E071-14440
chr145518018755180438E071-14026
chr145518579755185847E071-8617
chr145519418455194244E071-220
chr145519435455194414E071-50
chr145519445955194518E0710
chr145519452255194608E07158
chr145519462455194723E071160
chr145519474355194962E071279
chr145519682855197712E0712364
chr145519793855197988E0713474
chr145520476455205045E07110300
chr145520504655205251E07110582
chr145521583655215906E07121372
chr145522324055224008E07128776
chr145522473455224859E07130270
chr145522503455225088E07130570
chr145523901655241158E07144552
chr145524281855243826E07148354
chr145524394655244194E07149482
chr145515197155152171E072-42293
chr145515222555154829E072-39635
chr145516446055164987E072-29477
chr145516504755165606E072-28858
chr145516565555165731E072-28733
chr145517434155174486E072-19978
chr145517456255174747E072-19717
chr145517991555180024E072-14440
chr145521250055212606E07218036
chr145522437655224434E07229912
chr145522473455224859E07230270
chr145524281855243826E07248354
chr145514484155145116E073-49348
chr145515043055151697E073-42767
chr145515197155152171E073-42293
chr145515222555154829E073-39635
chr145517843555179818E073-14646
chr145517991555180024E073-14440
chr145518018755180438E073-14026
chr145518457755185449E073-9015
chr145521583655215906E07321372
chr145523901655241158E07344552
chr145524281855243826E07348354
chr145524394655244194E07349482
chr145514484155145116E074-49348
chr145515197155152171E074-42293
chr145516360055164362E074-30102
chr145516446055164987E074-29477
chr145516504755165606E074-28858
chr145516565555165731E074-28733
chr145516582355166243E074-28221
chr145517434155174486E074-19978
chr145517456255174747E074-19717
chr145517493855175122E074-19342
chr145517512655175299E074-19165
chr145517843555179818E074-14646
chr145518018755180438E074-14026
chr145518050755180617E074-13847
chr145518063555180743E074-13721
chr145518118755181300E074-13164
chr145518138055181566E074-12898
chr145518183355182262E074-12202
chr145518257355182712E074-11752
chr145519661755196661E0742153
chr145519671255196762E0742248
chr145519682855197712E0742364
chr145519793855197988E0743474
chr145520247655202516E0748012
chr145520273355202783E0748269
chr145520280455202865E0748340
chr145520394155204708E0749477
chr145520476455205045E07410300
chr145520504655205251E07410582
chr145521583655215906E07421372
chr145521602055216101E07421556
chr145521633755216387E07421873
chr145521847055218520E07424006
chr145524201755242122E07447553
chr145524225855242439E07447794
chr145524249255242578E07448028
chr145524258155242714E07448117
chr145524281855243826E07448354
chr145517991555180024E081-14440
chr145519435455194414E081-50
chr145519445955194518E0810
chr145519452255194608E08158
chr145519462455194723E081160
chr145519474355194962E081279
chr145519500255195052E081538
chr145524225855242439E08147794
chr145524249255242578E08148028
chr145524258155242714E08148117
chr145524281855243826E08148354
chr145524394655244194E08149482
chr145524421655244462E08149752
chr145519551455195610E0821050
chr145523629155236656E08241827
chr145524281855243826E08248354