rs667577

Homo sapiens
A>G
SEZ6L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0286 (8585/29948,GnomAD)
A==0312 (9104/29116,TOPMED)
A==0214 (1072/5008,1000G)
A==0308 (1188/3854,ALSPAC)
A==0316 (1170/3708,TWINSUK)
chr22:26378614 (GRCh38.p7) (22q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.26378614A>G
GRCh37.p13 chr 22NC_000022.10:g.26774580A>G

Gene: SEZ6L, seizure related 6 homolog like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SEZ6L transcript variant 2NM_001184773.1:c.N/AIntron Variant
SEZ6L transcript variant 3NM_001184774.1:c.N/AIntron Variant
SEZ6L transcript variant 4NM_001184775.1:c.N/AIntron Variant
SEZ6L transcript variant 5NM_001184776.1:c.N/AIntron Variant
SEZ6L transcript variant 6NM_001184777.1:c.N/AIntron Variant
SEZ6L transcript variant 1NM_021115.4:c.N/AIntron Variant
SEZ6L transcript variant X2XM_005261439.3:c.N/AIntron Variant
SEZ6L transcript variant X3XM_005261440.3:c.N/AIntron Variant
SEZ6L transcript variant X1XM_006724195.3:c.N/AIntron Variant
SEZ6L transcript variant X4XM_011530037.2:c.N/AIntron Variant
SEZ6L transcript variant X6XM_011530038.2:c.N/AIntron Variant
SEZ6L transcript variant X8XM_011530039.2:c.N/AIntron Variant
SEZ6L transcript variant X5XM_017028699.1:c.N/AIntron Variant
SEZ6L transcript variant X7XM_017028700.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.331G=0.669
1000GenomesAmericanSub694A=0.210G=0.790
1000GenomesEast AsianSub1008A=0.016G=0.984
1000GenomesEuropeSub1006A=0.309G=0.691
1000GenomesGlobalStudy-wide5008A=0.214G=0.786
1000GenomesSouth AsianSub978A=0.160G=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.308G=0.692
The Genome Aggregation DatabaseAfricanSub8712A=0.332G=0.668
The Genome Aggregation DatabaseAmericanSub838A=0.230G=0.770
The Genome Aggregation DatabaseEast AsianSub1620A=0.017G=0.983
The Genome Aggregation DatabaseEuropeSub18476A=0.290G=0.709
The Genome Aggregation DatabaseGlobalStudy-wide29948A=0.286G=0.713
The Genome Aggregation DatabaseOtherSub302A=0.360G=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.312G=0.687
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.316G=0.684
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
rs6675770.0000858alcoholismpha002892
rs6675770.000086alcohol dependence(early age of onset)20201924
rs6675770.00019alcohol dependence20201924

eQTL of rs667577 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 rs667577 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 )
chr222675611326756844E067-17736
chr222680085026801386E06726270
chr222680152626801576E06726946
chr222675611326756844E068-17736
chr222680019726800281E06825617
chr222680085026801386E06826270
chr222680152626801576E06826946
chr222675611326756844E069-17736
chr222680152626801576E06926946
chr222680170526801755E06927125
chr222682393926824014E06949359
chr222672681526726882E070-47698
chr222675611326756844E070-17736
chr222677031626770965E070-3615
chr222677118126771248E070-3332
chr222677141026771464E070-3116
chr222679464026795087E07120060
chr222679514926795254E07120569
chr222680085026801386E07126270
chr222680152626801576E07126946
chr222682393926824014E07149359
chr222679464026795087E07220060
chr222679514926795254E07220569
chr222680085026801386E07226270
chr222680009426800178E07325514
chr222680019726800281E07325617
chr222680085026801386E07326270
chr222680152626801576E07326946
chr222680170526801755E07327125
chr222675611326756844E074-17736
chr222677705426777152E0812474
chr222677746626777506E0812886
chr222677754826777598E0812968
chr222678654826786604E08111968
chr222678663426786712E08112054
chr222678695626787333E08112376
chr222678766226787962E08113082
chr222680576026806713E08131180
chr222682393926824014E08149359
chr222676036626760818E082-13762
chr222676088726760967E082-13613
chr222678654826786604E08211968
chr222678663426786712E08212054
chr222680085026801386E08226270
chr222680152626801576E08226946
chr222680576026806713E08231180