rs616650

Homo sapiens
C>T
FBL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0434 (13010/29944,GnomAD)
C==0405 (11805/29118,TOPMED)
C==0498 (2493/5008,1000G)
C==0465 (1794/3854,ALSPAC)
C==0480 (1779/3708,TWINSUK)
chr19:39837975 (GRCh38.p7) (19q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
43 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.39837975C>T
DYRK1B RefSeqGeneNG_034145.1:g.1259G>A
GRCh38.p7 chr 19 fix patch HG2021_PATCHNW_009646206.1:g.97851C>T
GRCh37.p13 chr 19NC_000019.9:g.40328615C>T

Gene: FBL, fibrillarin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FBL transcriptNM_001436.3:c.N/AIntron Variant
FBL transcript variant X1XM_005258651.2:c.N/AIntron Variant
FBL transcript variant X2XM_011526623.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.249T=0.751
1000GenomesAmericanSub694C=0.520T=0.480
1000GenomesEast AsianSub1008C=0.778T=0.222
1000GenomesEuropeSub1006C=0.437T=0.563
1000GenomesGlobalStudy-wide5008C=0.498T=0.502
1000GenomesSouth AsianSub978C=0.590T=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.465T=0.535
The Genome Aggregation DatabaseAfricanSub8724C=0.300T=0.700
The Genome Aggregation DatabaseAmericanSub838C=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1618C=0.787T=0.213
The Genome Aggregation DatabaseEuropeSub18462C=0.463T=0.536
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.434T=0.565
The Genome Aggregation DatabaseOtherSub302C=0.410T=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.405T=0.594
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.480T=0.520
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
rs6166500.000389alcohol dependence21314694

eQTL of rs616650 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:40328615DYRK1BENSG00000105204.9C>T7.3221e-53774Cerebellum

meQTL of rs616650 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 )
chr194033452240335033E0675907
chr194033513540335179E0676520
chr194033522740335325E0676612
chr194028331640283433E068-45182
chr194031377440313841E068-14774
chr194032268840322753E068-5862
chr194033513540335179E0686520
chr194033522740335325E0686612
chr194033311740333339E0694502
chr194033344140333481E0694826
chr194033353940333711E0694924
chr194033452240335033E0695907
chr194033513540335179E0696520
chr194033522740335325E0696612
chr194029582940296162E070-32453
chr194031607240316523E070-12092
chr194031657940316640E070-11975
chr194031669640316846E070-11769
chr194032158340321800E070-6815
chr194032186840321967E070-6648
chr194032209340322188E070-6427
chr194032239740322555E070-6060
chr194033513540335179E0706520
chr194033522740335325E0706612
chr194032257940322629E071-5986
chr194032268840322753E071-5862
chr194033522740335325E0716612
chr194032239740322555E073-6060
chr194032257940322629E073-5986
chr194032268840322753E073-5862
chr194033513540335179E0736520
chr194033522740335325E0736612
chr194031377440313841E081-14774
chr194032186840321967E081-6648
chr194032209340322188E081-6427
chr194032239740322555E081-6060
chr194032257940322629E081-5986
chr194032268840322753E081-5862
chr194033452240335033E0815907
chr194033513540335179E0816520
chr194033522740335325E0816612
chr194032239740322555E082-6060
chr194033522740335325E0826612








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194028354340284273E067-44342
chr194032362740325696E067-2919
chr194033624340338202E0677628
chr194028354340284273E068-44342
chr194032362740325696E068-2919
chr194033624340338202E0687628
chr194034894040349715E06820325
chr194028354340284273E069-44342
chr194032362740325696E069-2919
chr194033624340338202E0697628
chr194028354340284273E070-44342
chr194032362740325696E070-2919
chr194033624340338202E0707628
chr194028354340284273E071-44342
chr194032362740325696E071-2919
chr194033624340338202E0717628
chr194032362740325696E072-2919
chr194033624340338202E0727628
chr194032362740325696E073-2919
chr194033624340338202E0737628
chr194028354340284273E074-44342
chr194032362740325696E074-2919
chr194033624340338202E0747628
chr194032362740325696E081-2919
chr194033624340338202E0817628
chr194028354340284273E082-44342
chr194032362740325696E082-2919
chr194033624340338202E0827628