rs10926254

Homo sapiens
A>G
FMN2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0421 (12611/29940,GnomAD)
A==0480 (13996/29116,TOPMED)
A==0475 (2379/5008,1000G)
A==0307 (1182/3854,ALSPAC)
A==0310 (1149/3708,TWINSUK)
chr1:240435799 (GRCh38.p7) (1q43)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.240435799A>G
GRCh37.p13 chr 1NC_000001.10:g.240599099A>G
FMN2 RefSeqGeneNG_042054.1:g.348915A>G

Gene: FMN2, formin 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FMN2 transcript variant 1NM_001305424.1:c.N/AIntron Variant
FMN2 transcript variant 2NM_020066.4:c.N/AIntron Variant
FMN2 transcript variant X4XM_017001839.1:c.N/AIntron Variant
FMN2 transcript variant X5XM_017001840.1:c.N/AIntron Variant
FMN2 transcript variant X6XM_017001841.1:c.N/AIntron Variant
FMN2 transcript variant X7XM_017001842.1:c.N/AIntron Variant
FMN2 transcript variant X8XM_017001843.1:c.N/AIntron Variant
FMN2 transcript variant X3XM_011544237.2:c.N/AGenic Downstream Transcript Variant
FMN2 transcript variant X1XM_017001837.1:c.N/AGenic Downstream Transcript Variant
FMN2 transcript variant X2XM_017001838.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.703G=0.297
1000GenomesAmericanSub694A=0.420G=0.580
1000GenomesEast AsianSub1008A=0.268G=0.732
1000GenomesEuropeSub1006A=0.323G=0.677
1000GenomesGlobalStudy-wide5008A=0.475G=0.525
1000GenomesSouth AsianSub978A=0.570G=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.307G=0.693
The Genome Aggregation DatabaseAfricanSub8704A=0.650G=0.350
The Genome Aggregation DatabaseAmericanSub838A=0.430G=0.570
The Genome Aggregation DatabaseEast AsianSub1618A=0.271G=0.729
The Genome Aggregation DatabaseEuropeSub18478A=0.329G=0.671
The Genome Aggregation DatabaseGlobalStudy-wide29940A=0.421G=0.578
The Genome Aggregation DatabaseOtherSub302A=0.250G=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.480G=0.519
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.310G=0.690
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs109262540.00063alcohol dependence20201924

eQTL of rs10926254 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 rs10926254 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 )
chr1240565112240565344E081-33755
chr1240572236240572315E081-26784
chr1240628443240628634E08129344
chr1240628844240629028E08129745
chr1240565735240565923E082-33176