rs7762384

Homo sapiens
C>A
UTRN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0079 (2373/29972,GnomAD)
A=0123 (3588/29118,TOPMED)
A=0077 (387/5008,1000G)
A=0001 (2/3854,ALSPAC)
A=0000 (1/3708,TWINSUK)
chr6:144719159 (GRCh38.p7) (6q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.144719159C>A
GRCh37.p13 chr 6NC_000006.11:g.145040295C>A
UTRN RefSeqGeneNG_042293.1:g.432423C>A

Gene: UTRN, utrophin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UTRN transcriptNM_007124.2:c.N/AIntron Variant
UTRN transcript variant X5XM_005267127.4:c.N/AIntron Variant
UTRN transcript variant X7XM_005267130.2:c.N/AIntron Variant
UTRN transcript variant X8XM_005267133.2:c.N/AIntron Variant
UTRN transcript variant X12XM_006715560.3:c.N/AIntron Variant
UTRN transcript variant X2XM_011536101.2:c.N/AIntron Variant
UTRN transcript variant X1XM_011536102.2:c.N/AIntron Variant
UTRN transcript variant X6XM_011536106.2:c.N/AIntron Variant
UTRN transcript variant X9XM_011536107.2:c.N/AIntron Variant
UTRN transcript variant X11XM_011536109.2:c.N/AIntron Variant
UTRN transcript variant X3XM_017011243.1:c.N/AIntron Variant
UTRN transcript variant X4XM_017011244.1:c.N/AIntron Variant
UTRN transcript variant X10XM_017011245.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.719A=0.281
1000GenomesAmericanSub694C=0.980A=0.020
1000GenomesEast AsianSub1008C=1.000A=0.000
1000GenomesEuropeSub1006C=0.998A=0.002
1000GenomesGlobalStudy-wide5008C=0.923A=0.077
1000GenomesSouth AsianSub978C=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.999A=0.001
The Genome Aggregation DatabaseAfricanSub8710C=0.732A=0.268
The Genome Aggregation DatabaseAmericanSub838C=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1620C=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18502C=0.999A=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29972C=0.920A=0.079
The Genome Aggregation DatabaseOtherSub302C=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.876A=0.123
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=1.000A=0.000
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs77623842.03E-05alcohol craving with or without dependence22481050

eQTL of rs7762384 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 rs7762384 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 )
chr6145089762145090070E06749467
chr6145000856145000912E068-39383
chr6145000985145001038E068-39257
chr6145001878145001918E068-38377
chr6145002543145002629E068-37666
chr6145002663145002717E068-37578
chr6145004380145004430E068-35865
chr6145004507145004631E068-35664
chr6145046994145047604E0686699
chr6145089762145090070E06849467
chr6145057781145057835E06917486
chr6145089762145090070E06949467
chr6145057781145057835E07017486
chr6145089762145090070E07049467
chr6145004380145004430E071-35865
chr6145004507145004631E071-35664
chr6145004645145005115E071-35180
chr6145089762145090070E07149467
chr6145000856145000912E074-39383
chr6145002543145002629E074-37666
chr6145002663145002717E074-37578
chr6145057781145057835E07417486
chr6145077677145077986E07437382
chr6145078884145078987E07438589
chr6145079016145079113E07438721
chr6145004380145004430E082-35865
chr6145004507145004631E082-35664
chr6145046994145047604E0826699