rs12554360

Homo sapiens
C>T
GAS1RR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0129 (3881/29974,GnomAD)
T=0134 (3911/29118,TOPMED)
T=0087 (434/5008,1000G)
T=0192 (739/3854,ALSPAC)
T=0193 (715/3708,TWINSUK)
chr9:86971425 (GRCh38.p7) (9q21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
69 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.86971425C>T
GRCh37.p13 chr 9NC_000009.11:g.89586340C>T

Gene: GAS1RR, GAS1 adjacent regulatory RNA(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GAS1RR transcriptNR_049794.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.983T=0.017
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.998T=0.002
1000GenomesEuropeSub1006C=0.788T=0.212
1000GenomesGlobalStudy-wide5008C=0.913T=0.087
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.808T=0.192
The Genome Aggregation DatabaseAfricanSub8724C=0.957T=0.043
The Genome Aggregation DatabaseAmericanSub834C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1622C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18492C=0.818T=0.181
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.870T=0.129
The Genome Aggregation DatabaseOtherSub302C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.865T=0.134
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.807T=0.193
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
rs125543600.000813alcohol dependence21314694

eQTL of rs12554360 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 rs12554360 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 )
chr98956462389564663E067-21677
chr98962200089622073E06735660
chr98962209889622203E06735758
chr98962229889622473E06735958
chr98962258489623420E06736244
chr98962349189623885E06737151
chr98962176889621999E06835428
chr98962200089622073E06835660
chr98962209889622203E06835758
chr98962229889622473E06835958
chr98962258489623420E06836244
chr98963498289635138E06848642
chr98963514589635373E06848805
chr98963541289635477E06849072
chr98963552489635775E06849184
chr98963589389636024E06849553
chr98963616489636214E06849824
chr98955695389559261E069-27079
chr98962176889621999E06935428
chr98962200089622073E06935660
chr98962209889622203E06935758
chr98962229889622473E06935958
chr98962258489623420E06936244
chr98962349189623885E06937151
chr98963514589635373E06948805
chr98963541289635477E06949072
chr98963552489635775E06949184
chr98963589389636024E06949553
chr98963616489636214E06949824
chr98953768789537852E070-48488
chr98953790489538234E070-48106
chr98955548789555537E070-30803
chr98955575089555994E070-30346
chr98955600489556408E070-29932
chr98955659489556770E070-29570
chr98962229889622473E07035958
chr98962258489623420E07036244
chr98955695389559261E071-27079
chr98962200089622073E07135660
chr98962209889622203E07135758
chr98962229889622473E07135958
chr98962258489623420E07136244
chr98962349189623885E07137151
chr98963498289635138E07148642
chr98963514589635373E07148805
chr98963541289635477E07149072
chr98963552489635775E07149184
chr98963589389636024E07149553
chr98956462389564663E072-21677
chr98962209889622203E07235758
chr98962229889622473E07235958
chr98962258489623420E07236244
chr98962349189623885E07237151
chr98962200089622073E07335660
chr98962209889622203E07335758
chr98962229889622473E07335958
chr98962258489623420E07336244
chr98962349189623885E07337151
chr98962209889622203E07435758
chr98962229889622473E07435958
chr98962258489623420E07436244
chr98962349189623885E07437151
chr98963541289635477E07449072
chr98963552489635775E07449184
chr98963589389636024E07449553
chr98962176889621999E08135428
chr98962200089622073E08135660
chr98962209889622203E08135758
chr98962229889622473E08135958









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr98955967489559853E067-26487
chr98955985889564199E067-22141
chr98955967489559853E068-26487
chr98955985889564199E068-22141
chr98955967489559853E069-26487
chr98955985889564199E069-22141
chr98955939289559584E070-26756
chr98955967489559853E070-26487
chr98955985889564199E070-22141
chr98955985889564199E071-22141
chr98955967489559853E072-26487
chr98955985889564199E072-22141
chr98955967489559853E073-26487
chr98955985889564199E073-22141
chr98955985889564199E074-22141
chr98955967489559853E081-26487
chr98955939289559584E082-26756
chr98955967489559853E082-26487
chr98955985889564199E082-22141