rs1706923

Homo sapiens
A>G
EFCAB10 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0321 (9582/29780,GnomAD)
G=0359 (10452/29118,TOPMED)
G=0316 (1585/5008,1000G)
G=0237 (913/3854,ALSPAC)
G=0230 (854/3708,TWINSUK)
chr7:105580650 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
139 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.105580650A>G
GRCh37.p13 chr 7NC_000007.13:g.105221097A>G

Gene: EFCAB10, EF-hand calcium binding domain 10(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EFCAB10 transcriptNR_027068.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.444G=0.556
1000GenomesAmericanSub694A=0.780G=0.220
1000GenomesEast AsianSub1008A=0.865G=0.135
1000GenomesEuropeSub1006A=0.734G=0.266
1000GenomesGlobalStudy-wide5008A=0.684G=0.316
1000GenomesSouth AsianSub978A=0.700G=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.763G=0.237
The Genome Aggregation DatabaseAfricanSub8674A=0.492G=0.508
The Genome Aggregation DatabaseAmericanSub834A=0.750G=0.250
The Genome Aggregation DatabaseEast AsianSub1618A=0.886G=0.114
The Genome Aggregation DatabaseEuropeSub18354A=0.743G=0.256
The Genome Aggregation DatabaseGlobalStudy-wide29780A=0.678G=0.321
The Genome Aggregation DatabaseOtherSub300A=0.740G=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.641G=0.359
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.770G=0.230
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
rs17069230.000516alcohol dependence21314694

eQTL of rs1706923 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:105221097PUS7ENSG00000091127.9A>G3.0140e-558383Cerebellum
Chr7:105221097RP11-251G23.5ENSG00000272604.1A>G1.9386e-49567Cerebellum
Chr7:105221097PUS7ENSG00000091127.9A>G1.0333e-558383Cerebellar_Hemisphere

meQTL of rs1706923 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 )
chr7105174066105174167E067-46930
chr7105174293105174510E067-46587
chr7105229802105230346E0678705
chr7105244458105244569E06723361
chr7105251301105251495E06730204
chr7105251554105251656E06730457
chr7105260928105261047E06739831
chr7105261365105261419E06740268
chr7105261514105261630E06740417
chr7105261850105262019E06740753
chr7105262084105262766E06740987
chr7105250798105250848E06829701
chr7105250985105251038E06829888
chr7105251048105251160E06829951
chr7105251301105251495E06830204
chr7105251554105251656E06830457
chr7105261365105261419E06840268
chr7105261514105261630E06840417
chr7105261850105262019E06840753
chr7105262084105262766E06840987
chr7105262830105262877E06841733
chr7105262983105263137E06841886
chr7105263145105263185E06842048
chr7105263255105263313E06842158
chr7105263354105263408E06842257
chr7105263440105263512E06842343
chr7105263575105263664E06842478
chr7105174066105174167E069-46930
chr7105174293105174510E069-46587
chr7105207660105207822E069-13275
chr7105207907105207961E069-13136
chr7105208290105208401E069-12696
chr7105208466105208579E069-12518
chr7105229607105229647E0698510
chr7105229741105229792E0698644
chr7105229802105230346E0698705
chr7105250798105250848E06929701
chr7105250985105251038E06929888
chr7105251048105251160E06929951
chr7105251301105251495E06930204
chr7105251554105251656E06930457
chr7105251663105251713E06930566
chr7105261365105261419E06940268
chr7105261514105261630E06940417
chr7105261850105262019E06940753
chr7105262084105262766E06940987
chr7105262830105262877E06941733
chr7105262983105263137E06941886
chr7105174066105174167E070-46930
chr7105261365105261419E07040268
chr7105261514105261630E07040417
chr7105261850105262019E07040753
chr7105262084105262766E07040987
chr7105262830105262877E07041733
chr7105262983105263137E07041886
chr7105263145105263185E07042048
chr7105174066105174167E071-46930
chr7105174293105174510E071-46587
chr7105250985105251038E07129888
chr7105251048105251160E07129951
chr7105251301105251495E07130204
chr7105251554105251656E07130457
chr7105251663105251713E07130566
chr7105261514105261630E07140417
chr7105261850105262019E07140753
chr7105262084105262766E07140987
chr7105262830105262877E07141733
chr7105262983105263137E07141886
chr7105174066105174167E072-46930
chr7105229802105230346E0728705
chr7105244294105244363E07223197
chr7105251048105251160E07229951
chr7105251301105251495E07230204
chr7105261850105262019E07240753
chr7105262084105262766E07240987
chr7105262830105262877E07241733
chr7105262983105263137E07241886
chr7105263145105263185E07242048
chr7105174066105174167E073-46930
chr7105251301105251495E07330204
chr7105251554105251656E07330457
chr7105261365105261419E07340268
chr7105261514105261630E07340417
chr7105261850105262019E07340753
chr7105262084105262766E07340987
chr7105262830105262877E07341733
chr7105174066105174167E074-46930
chr7105174293105174510E074-46587
chr7105207660105207822E074-13275
chr7105207907105207961E074-13136
chr7105208290105208401E074-12696
chr7105208466105208579E074-12518
chr7105250798105250848E07429701
chr7105250985105251038E07429888
chr7105251048105251160E07429951
chr7105251301105251495E07430204
chr7105251554105251656E07430457
chr7105251663105251713E07430566
chr7105252204105252254E07431107
chr7105252413105252563E07431316
chr7105261365105261419E07440268
chr7105261514105261630E07440417
chr7105261850105262019E07440753
chr7105262084105262766E07440987
chr7105262830105262877E07441733
chr7105262983105263137E07441886
chr7105263145105263185E07442048
chr7105229607105229647E0818510
chr7105229741105229792E0818644
chr7105229802105230346E0818705
chr7105233613105233663E08112516
chr7105234198105234352E08113101
chr7105234547105234602E08113450
chr7105234604105235022E08113507
chr7105235261105235894E08114164
chr7105237420105237582E08116323
chr7105260928105261047E08139831
chr7105261365105261419E08140268
chr7105261514105261630E08140417
chr7105261850105262019E08140753
chr7105262084105262766E08140987
chr7105262830105262877E08141733
chr7105262983105263137E08141886
chr7105263145105263185E08142048
chr7105263255105263313E08142158
chr7105263354105263408E08142257
chr7105229802105230346E0828705
chr7105234547105234602E08213450
chr7105234604105235022E08213507
chr7105235261105235894E08214164
chr7105237033105237168E08215936
chr7105237420105237582E08216323
chr7105261365105261419E08240268
chr7105261514105261630E08240417
chr7105261850105262019E08240753
chr7105262084105262766E08240987
chr7105262830105262877E08241733
chr7105262983105263137E08241886
chr7105263145105263185E08242048










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7105171857105173427E067-47670
chr7105221386105221459E067289
chr7105171857105173427E068-47670
chr7105221386105221459E068289
chr7105171857105173427E069-47670
chr7105221386105221459E069289
chr7105171857105173427E070-47670
chr7105221386105221459E070289
chr7105171857105173427E071-47670
chr7105221386105221459E071289
chr7105171857105173427E072-47670
chr7105221386105221459E072289
chr7105171857105173427E073-47670
chr7105221386105221459E073289
chr7105171857105173427E074-47670
chr7105221386105221459E074289
chr7105171857105173427E081-47670
chr7105171857105173427E082-47670
chr7105221386105221459E082289