rs180172

Homo sapiens
A>G
LOC107983956 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0096 (2889/29956,GnomAD)
G=0097 (2835/29118,TOPMED)
G=0121 (607/5008,1000G)
G=0122 (472/3854,ALSPAC)
G=0116 (430/3708,TWINSUK)
chr17:70041173 (GRCh38.p7) (17q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.70041173A>G
GRCh37.p13 chr 17NC_000017.10:g.68037314A>G

Gene: LOC107983956, uncharacterized LOC107983956(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105371881 transcriptXR_934952.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.889G=0.111
1000GenomesAmericanSub694A=0.870G=0.130
1000GenomesEast AsianSub1008A=0.994G=0.006
1000GenomesEuropeSub1006A=0.902G=0.098
1000GenomesGlobalStudy-wide5008A=0.879G=0.121
1000GenomesSouth AsianSub978A=0.730G=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.878G=0.122
The Genome Aggregation DatabaseAfricanSub8708A=0.898G=0.102
The Genome Aggregation DatabaseAmericanSub838A=0.860G=0.140
The Genome Aggregation DatabaseEast AsianSub1620A=0.995G=0.005
The Genome Aggregation DatabaseEuropeSub18488A=0.899G=0.100
The Genome Aggregation DatabaseGlobalStudy-wide29956A=0.903G=0.096
The Genome Aggregation DatabaseOtherSub302A=0.930G=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.902G=0.097
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.884G=0.116
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
rs1801720.000648alcohol dependence21314694

eQTL of rs180172 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 rs180172 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr176806307968063172E06825765
chr176806334768063758E06826033
chr176806390568063955E06826591
chr176806307968063172E06925765
chr176806334768063758E06926033
chr176806390568063955E06926591
chr176806917168069334E06931857
chr176806940968069578E06932095
chr176806961968069741E06932305
chr176806976268069819E06932448
chr176806992368069970E06932609
chr176806992368069970E07032609
chr176807085968071558E07033545
chr176807159868071663E07034284
chr176806334768063758E07126033
chr176806917168069334E07131857
chr176806940968069578E07132095
chr176806334768063758E07226033
chr176806917168069334E07231857
chr176806940968069578E07232095
chr176806307968063172E07425765
chr176806334768063758E07426033
chr176806390568063955E07426591
chr176806917168069334E07431857
chr176806940968069578E07432095
chr176806961968069741E07432305
chr176806976268069819E07432448
chr176806992368069970E07432609
chr176807006068070234E07432746
chr176805632568056425E08119011
chr176805649568056554E08119181
chr176805665768056828E08119343