rs2295435

Homo sapiens
C>T
FERMT1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0448 (50582/112680,ExAC)
T=0379 (11348/29894,GnomAD)
T=0404 (11780/29118,TOPMED)
C==0407 (5294/13006,GO-ESP)
T=0419 (2100/5008,1000G)
T=0433 (1667/3854,ALSPAC)
T=0425 (1575/3708,TWINSUK)
chr20:6116048 (GRCh38.p7) (20p12.3)
CD
GWASdb2
2   publication(s)
See rs on genome
76 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.6116048C>T
GRCh37.p13 chr 20NC_000020.10:g.6096695C>T
FERMT1 RefSeqGeneNG_016213.1:g.12497G>A

Gene: FERMT1, fermitin family member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FERMT1 transcriptNM_017671.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.656T=0.344
1000GenomesAmericanSub694C=0.570T=0.430
1000GenomesEast AsianSub1008C=0.701T=0.299
1000GenomesEuropeSub1006C=0.533T=0.467
1000GenomesGlobalStudy-wide5008C=0.581T=0.419
1000GenomesSouth AsianSub978C=0.410T=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.567T=0.433
The Exome Aggregation ConsortiumAmericanSub19864C=0.598T=0.401
The Exome Aggregation ConsortiumAsianSub24054C=0.499T=0.500
The Exome Aggregation ConsortiumEuropeSub67904C=0.555T=0.444
The Exome Aggregation ConsortiumGlobalStudy-wide112680C=0.551T=0.448
The Exome Aggregation ConsortiumOtherSub858C=0.550T=0.450
The Genome Aggregation DatabaseAfricanSub8712C=0.639T=0.361
The Genome Aggregation DatabaseAmericanSub832C=0.570T=0.430
The Genome Aggregation DatabaseEast AsianSub1614C=0.709T=0.291
The Genome Aggregation DatabaseEuropeSub18434C=0.608T=0.391
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.620T=0.379
The Genome Aggregation DatabaseOtherSub302C=0.450T=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.595T=0.404
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.575T=0.425
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry
25741868Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Richards SGenet Med

P-Value

SNP ID p-value Traits Study
rs22954350.00000314cocaine dependence23958962
rs22954350.0000684cocaine dependence23958962
rs22954350.000774cocaine dependence,AA23958962

eQTL of rs2295435 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 rs2295435 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 )
chr2061084796108564E06711784
chr2061086586108708E06711963
chr2061090526109102E06712357
chr2061096256109908E06712930
chr2061084796108564E06811784
chr2061086586108708E06811963
chr2061090526109102E06812357
chr2061096256109908E06812930
chr2061113836111519E06814688
chr2061116646111724E06814969
chr2061424276142658E06845732
chr2061428916143517E06846196
chr2060560226056855E069-39840
chr2060569216057099E069-39596
chr2060577126058305E069-38390
chr2061084796108564E06911784
chr2061086586108708E06911963
chr2061090526109102E06912357
chr2061096256109908E06912930
chr2061113836111519E06914688
chr2061116646111724E06914969
chr2060547656055452E070-41243
chr2060555996055928E070-40767
chr2060560226056855E070-39840
chr2060569216057099E070-39596
chr2060572006057289E070-39406
chr2060575096057563E070-39132
chr2060577126058305E070-38390
chr2061090526109102E07012357
chr2061096256109908E07012930
chr2061102606110300E07013565
chr2061113836111519E07014688
chr2061116646111724E07014969
chr2061125536112633E07015858
chr2061127396112851E07016044
chr2061128556112905E07016160
chr2061130026113099E07016307
chr2061424276142658E07045732
chr2061428916143517E07046196
chr2061436666143780E07046971
chr2061449276145129E07048232
chr2061451306145977E07048435
chr2060569216057099E071-39596
chr2060572006057289E071-39406
chr2060575096057563E071-39132
chr2060577126058305E071-38390
chr2061084796108564E07111784
chr2061086586108708E07111963
chr2061113836111519E07114688
chr2061451306145977E07248435
chr2060560226056855E073-39840
chr2061090526109102E07412357
chr2061449276145129E07448232
chr2061451306145977E07448435
chr2061461236146338E07449428
chr2060547656055452E081-41243
chr2060555996055928E081-40767
chr2060560226056855E081-39840
chr2060569216057099E081-39596
chr2060572006057289E081-39406
chr2060575096057563E081-39132
chr2060577126058305E081-38390
chr2060588516058895E081-37800
chr2060593746059728E081-36967
chr2060597576059998E081-36697
chr2061048636104934E0818168
chr2061428916143517E08146196
chr2061436666143780E08146971
chr2060555996055928E082-40767
chr2060560226056855E082-39840
chr2060569216057099E082-39596
chr2060572006057289E082-39406
chr2060575096057563E082-39132
chr2060577126058305E082-38390
chr2061424276142658E08245732
chr2061428916143517E08246196










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2061026966104557E0676001
chr2061022736102694E0685578
chr2061026966104557E0686001
chr2061026966104557E0696001
chr2061026966104557E0706001
chr2061026966104557E0726001
chr2061026966104557E0736001
chr2061026966104557E0746001
chr2061026966104557E0826001