rs17235985

Homo sapiens
G>T
LOC107984123 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0224 (6661/29686,GnomAD)
T=0215 (6279/29118,TOPMED)
T=0220 (1101/5008,1000G)
T=0328 (1265/3854,ALSPAC)
T=0321 (1191/3708,TWINSUK)
chr7:135309545 (GRCh38.p7) (7q33)
AD
GWASdb2
1   publication(s)
See rs on genome
107 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.135309545G>T
GRCh37.p13 chr 7NC_000007.13:g.134994297G>T
SLC23A4P pseudogeneNG_006548.1:g.4117C>A

Gene: LOC107984123, uncharacterized LOC107984123(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984123 transcriptXR_001745376.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.915T=0.085
1000GenomesAmericanSub694G=0.780T=0.220
1000GenomesEast AsianSub1008G=0.888T=0.112
1000GenomesEuropeSub1006G=0.673T=0.327
1000GenomesGlobalStudy-wide5008G=0.780T=0.220
1000GenomesSouth AsianSub978G=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.672T=0.328
The Genome Aggregation DatabaseAfricanSub8664G=0.896T=0.104
The Genome Aggregation DatabaseAmericanSub838G=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1614G=0.888T=0.112
The Genome Aggregation DatabaseEuropeSub18270G=0.708T=0.291
The Genome Aggregation DatabaseGlobalStudy-wide29686G=0.775T=0.224
The Genome Aggregation DatabaseOtherSub300G=0.670T=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.784T=0.215
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.679T=0.321
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
rs172359850.00013alcohol dependence(early age of onset)20201924
rs172359850.00099alcohol dependence20201924

eQTL of rs17235985 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 rs17235985 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 )
chr7134944944134945267E067-49030
chr7134945406134945502E067-48795
chr7134945681134946590E067-47707
chr7134946746134946879E067-47418
chr7134959165134959737E067-34560
chr7134959770134959852E067-34445
chr7135027132135027182E06732835
chr7135027268135027320E06732971
chr7135027384135028670E06733087
chr7134945406134945502E068-48795
chr7134946746134946879E068-47418
chr7134947033134947118E068-47179
chr7134947148134947198E068-47099
chr7134966119134966768E068-27529
chr7134966799134966864E068-27433
chr7134966884134967048E068-27249
chr7135005561135005612E06811264
chr7135006302135006664E06812005
chr7135006759135006862E06812462
chr7135006957135007001E06812660
chr7135027132135027182E06832835
chr7135027268135027320E06832971
chr7135027384135028670E06833087
chr7134944753134944825E069-49472
chr7134944944134945267E069-49030
chr7134945406134945502E069-48795
chr7134945681134946590E069-47707
chr7134946746134946879E069-47418
chr7134959165134959737E069-34560
chr7134959770134959852E069-34445
chr7134966799134966864E069-27433
chr7135027268135027320E06932971
chr7135027384135028670E06933087
chr7134945681134946590E070-47707
chr7134988474134988574E070-5723
chr7135004925135005525E07010628
chr7135005561135005612E07011264
chr7135006302135006664E07012005
chr7135006759135006862E07012462
chr7135006957135007001E07012660
chr7135019653135019911E07025356
chr7135019986135020921E07025689
chr7135027132135027182E07032835
chr7135027268135027320E07032971
chr7135027384135028670E07033087
chr7134944507134944690E071-49607
chr7134944753134944825E071-49472
chr7134944944134945267E071-49030
chr7134945406134945502E071-48795
chr7134946746134946879E071-47418
chr7134947852134948010E071-46287
chr7134948023134948073E071-46224
chr7134959165134959737E071-34560
chr7134959770134959852E071-34445
chr7134966799134966864E071-27433
chr7135027132135027182E07132835
chr7135027268135027320E07132971
chr7135027384135028670E07133087
chr7134944753134944825E072-49472
chr7134944944134945267E072-49030
chr7134945406134945502E072-48795
chr7134945681134946590E072-47707
chr7134946746134946879E072-47418
chr7134947033134947118E072-47179
chr7134947148134947198E072-47099
chr7134947852134948010E072-46287
chr7134948023134948073E072-46224
chr7134966799134966864E072-27433
chr7135027268135027320E07232971
chr7135027384135028670E07233087
chr7134945406134945502E073-48795
chr7134945681134946590E073-47707
chr7134946746134946879E073-47418
chr7134959165134959737E073-34560
chr7134959770134959852E073-34445
chr7135004925135005525E07310628
chr7135027268135027320E07332971
chr7135027384135028670E07333087
chr7134944944134945267E074-49030
chr7134945406134945502E074-48795
chr7134946746134946879E074-47418
chr7134966119134966768E074-27529
chr7134966799134966864E074-27433
chr7135027132135027182E07432835
chr7135027268135027320E07432971
chr7135027384135028670E07433087
chr7134966884134967048E081-27249
chr7134967365134968080E081-26217
chr7135024998135025241E08130701
chr7135025326135025447E08131029
chr7135025643135025693E08131346
chr7135025780135026333E08131483
chr7135026427135026507E08132130
chr7135026904135026987E08132607
chr7135027132135027182E08132835
chr7135027268135027320E08132971
chr7135027384135028670E08133087
chr7135028749135028814E08134452
chr7135031219135031270E08136922
chr7135006302135006664E08212005
chr7135006759135006862E08212462
chr7135025326135025447E08231029
chr7135025643135025693E08231346
chr7135025780135026333E08231483
chr7135027268135027320E08232971
chr7135027384135028670E08233087
chr7135028749135028814E08234452