rs7220650

Homo sapiens
T>C
FBXL20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0369 (11052/29938,GnomAD)
C=0449 (13086/29118,TOPMED)
C=0363 (1817/5008,1000G)
C=0255 (983/3854,ALSPAC)
C=0264 (980/3708,TWINSUK)
chr17:39330915 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
69 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.39330915T>C
GRCh37.p13 chr 17NC_000017.10:g.37487168T>C

Gene: FBXL20, F-box and leucine-rich repeat protein 20(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FBXL20 transcript variant 2NM_001184906.1:c.N/AIntron Variant
FBXL20 transcript variant 1NM_032875.2:c.N/AIntron Variant
FBXL20 transcript variant X2XM_005257746.3:c.N/AIntron Variant
FBXL20 transcript variant X1XM_005257747.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.280C=0.720
1000GenomesAmericanSub694T=0.660C=0.340
1000GenomesEast AsianSub1008T=0.736C=0.264
1000GenomesEuropeSub1006T=0.747C=0.253
1000GenomesGlobalStudy-wide5008T=0.637C=0.363
1000GenomesSouth AsianSub978T=0.890C=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.745C=0.255
The Genome Aggregation DatabaseAfricanSub8710T=0.334C=0.666
The Genome Aggregation DatabaseAmericanSub836T=0.690C=0.310
The Genome Aggregation DatabaseEast AsianSub1612T=0.697C=0.303
The Genome Aggregation DatabaseEuropeSub18478T=0.761C=0.238
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.630C=0.369
The Genome Aggregation DatabaseOtherSub302T=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.550C=0.449
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.736C=0.264
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
rs72206500.000572alcohol dependence20201924

eQTL of rs7220650 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 rs7220650 in Fetal Brain

Probe ID Position Gene beta p-value
cg07936489chr17:37558343FBXL200.01869473176222446.2376e-14
cg15445000chr17:37608096MED1-0.04267647348707911.3443e-10
cg00129232chr17:37814104STARD30.005866721697444569.7516e-10
cg20243544chr17:37824526PNMT-0.01369878738485874.7102e-9
cg07936489chr17:37558343FBXL200.0186947326.2400e-14

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 )
chr173746289037463100E067-24068
chr173746316737463309E067-23859
chr173751386237514579E06726694
chr173751611437516171E06728946
chr173751648837516581E06729320
chr173751691737517090E06729749
chr173751733237517382E06730164
chr173751748037517548E06730312
chr173752197737522114E06734809
chr173752229537522372E06735127
chr173752257237522676E06735404
chr173746227437462402E068-24766
chr173746247637462567E068-24601
chr173746257937462714E068-24454
chr173746276037462810E068-24358
chr173746289037463100E068-24068
chr173746316737463309E068-23859
chr173751648837516581E06829320
chr173751691737517090E06829749
chr173751733237517382E06830164
chr173751748037517548E06830312
chr173753639237536664E06849224
chr173750876737508817E06921599
chr173750887737509027E06921709
chr173750906937509228E06921901
chr173750924637509478E06922078
chr173751648837516581E06929320
chr173751691737517090E06929749
chr173751733237517382E06930164
chr173751748037517548E06930312
chr173752229537522372E06935127
chr173753639237536664E06949224
chr173751538737515442E07028219
chr173751691737517090E07029749
chr173751733237517382E07030164
chr173751748037517548E07030312
chr173746227437462402E071-24766
chr173746247637462567E071-24601
chr173746257937462714E071-24454
chr173746276037462810E071-24358
chr173746289037463100E071-24068
chr173746316737463309E071-23859
chr173749095337491073E0713785
chr173751386237514579E07126694
chr173751611437516171E07128946
chr173751648837516581E07129320
chr173751691737517090E07129749
chr173751733237517382E07130164
chr173751748037517548E07130312
chr173751768337517751E07130515
chr173752197737522114E07134809
chr173752229537522372E07135127
chr173752257237522676E07135404
chr173753639237536664E07149224
chr173751648837516581E07229320
chr173751691737517090E07229749
chr173751733237517382E07230164
chr173751748037517548E07230312
chr173752197737522114E07234809
chr173752229537522372E07235127
chr173752257237522676E07235404
chr173746316737463309E073-23859
chr173751691737517090E07329749
chr173751733237517382E07330164
chr173751648837516581E07429320
chr173751691737517090E07429749
chr173751733237517382E07430164
chr173751748037517548E07430312
chr173752257237522676E07435404