rs138229

Homo sapiens
A>G
MOV10L1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0405 (12122/29870,GnomAD)
G=0383 (11161/29114,TOPMED)
G=0291 (1459/5008,1000G)
G=0477 (1837/3854,ALSPAC)
G=0480 (1778/3708,TWINSUK)
chr22:50118978 (GRCh38.p7) (22q13.33)
AD
GWASCatalog
1   publication(s)
See rs on genome
95 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.50118978A>G
GRCh37.p13 chr 22NC_000022.10:g.50557407A>G

Gene: MOV10L1, Mov10 RISC complex RNA helicase like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MOV10L1 transcript variant 2NM_001164104.1:c.N/AIntron Variant
MOV10L1 transcript variant 3NM_001164105.1:c.N/AIntron Variant
MOV10L1 transcript variant 1NM_018995.2:c.N/AIntron Variant
MOV10L1 transcript variant 4NM_001164106.1:c.N/AGenic Upstream Transcript Variant
MOV10L1 transcript variant X7XM_005261923.3:c.N/AIntron Variant
MOV10L1 transcript variant X1XM_011530696.1:c.N/AIntron Variant
MOV10L1 transcript variant X2XM_011530697.1:c.N/AIntron Variant
MOV10L1 transcript variant X4XM_011530698.1:c.N/AIntron Variant
MOV10L1 transcript variant X5XM_011530699.1:c.N/AIntron Variant
MOV10L1 transcript variant X6XM_011530700.2:c.N/AIntron Variant
MOV10L1 transcript variant X8XM_011530701.1:c.N/AIntron Variant
MOV10L1 transcript variant X9XM_011530702.1:c.N/AIntron Variant
MOV10L1 transcript variant X12XM_011530703.1:c.N/AIntron Variant
MOV10L1 transcript variant X15XM_011530704.1:c.N/AIntron Variant
MOV10L1 transcript variant X3XM_017028833.1:c.N/AIntron Variant
MOV10L1 transcript variant X11XM_017028834.1:c.N/AIntron Variant
MOV10L1 transcript variant X13XM_017028835.1:c.N/AIntron Variant
MOV10L1 transcript variant X16XM_017028837.1:c.N/AIntron Variant
MOV10L1 transcript variant X14XM_017028836.1:c.N/AGenic Upstream Transcript Variant
MOV10L1 transcript variant X10XR_430479.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.788G=0.212
1000GenomesAmericanSub694A=0.590G=0.410
1000GenomesEast AsianSub1008A=0.837G=0.163
1000GenomesEuropeSub1006A=0.579G=0.421
1000GenomesGlobalStudy-wide5008A=0.709G=0.291
1000GenomesSouth AsianSub978A=0.690G=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.523G=0.477
The Genome Aggregation DatabaseAfricanSub8686A=0.713G=0.287
The Genome Aggregation DatabaseAmericanSub838A=0.590G=0.410
The Genome Aggregation DatabaseEast AsianSub1616A=0.811G=0.189
The Genome Aggregation DatabaseEuropeSub18430A=0.519G=0.480
The Genome Aggregation DatabaseGlobalStudy-wide29870A=0.594G=0.405
The Genome Aggregation DatabaseOtherSub300A=0.580G=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29114A=0.616G=0.383
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.520G=0.480
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs1382299E-06alcohol dependence23942779

eQTL of rs138229 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 rs138229 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 )
chr225058487250585643E06727465
chr225058604650586100E06728639
chr225058610850586158E06728701
chr225058626250586515E06728855
chr225058674950586877E06729342
chr225058691850587008E06729511
chr225058736350588227E06729956
chr225051299750513047E068-44360
chr225051308950513530E068-43877
chr225058604650586100E06828639
chr225058610850586158E06828701
chr225058626250586515E06828855
chr225058487250585643E06927465
chr225058604650586100E06928639
chr225058610850586158E06928701
chr225058626250586515E06928855
chr225058674950586877E06929342
chr225058691850587008E06929511
chr225051268450512847E070-44560
chr225051299750513047E070-44360
chr225051308950513530E070-43877
chr225051364450513887E070-43520
chr225052477750524862E070-32545
chr225052640350526472E070-30935
chr225057495650575013E07017549
chr225058487250585643E07027465
chr225058604650586100E07028639
chr225058610850586158E07028701
chr225058626250586515E07028855
chr225052477750524862E071-32545
chr225058487250585643E07127465
chr225058604650586100E07128639
chr225058610850586158E07128701
chr225058626250586515E07128855
chr225058674950586877E07129342
chr225058691850587008E07129511
chr225051308950513530E072-43877
chr225051364450513887E072-43520
chr225058487250585643E07227465
chr225058604650586100E07228639
chr225058610850586158E07228701
chr225058626250586515E07228855
chr225058674950586877E07229342
chr225058691850587008E07229511
chr225058736350588227E07229956
chr225058487250585643E07327465
chr225058604650586100E07328639
chr225058610850586158E07328701
chr225058626250586515E07328855
chr225058674950586877E07329342
chr225058691850587008E07329511
chr225058736350588227E07329956
chr225051299750513047E074-44360
chr225051308950513530E074-43877
chr225058487250585643E07427465
chr225058604650586100E07428639
chr225058610850586158E07428701
chr225058626250586515E07428855
chr225058674950586877E07429342
chr225058691850587008E07429511
chr225051268450512847E081-44560
chr225051299750513047E081-44360
chr225051308950513530E081-43877
chr225051364450513887E081-43520
chr225052150650521880E081-35527
chr225052192050522014E081-35393
chr225052213750522177E081-35230
chr225052220450522293E081-35114
chr225052255250522669E081-34738
chr225052302250523332E081-34075
chr225052334150523413E081-33994
chr225058487250585643E08127465
chr225058604650586100E08128639
chr225058610850586158E08128701
chr225058626250586515E08128855
chr225058674950586877E08129342
chr225058691850587008E08129511
chr225058736350588227E08129956
chr225058850650588552E08131099
chr225058860250588657E08131195
chr225058868950588757E08131282
chr225058884650589224E08131439
chr225058925250589495E08131845
chr225058973550589785E08132328
chr225059549550595557E08138088
chr225059629850596474E08138891
chr225059650450596814E08139097
chr225059709450597181E08139687
chr225059724850597302E08139841
chr225059734350597395E08139936
chr225050930650509371E082-48036
chr225051299750513047E082-44360
chr225051308950513530E082-43877
chr225052477750524862E082-32545
chr225057495650575013E08217549