rs991639

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
A=0164 (4907/29916,GnomAD)
A=0150 (4376/29118,TOPMED)
A=0231 (1159/5008,1000G)
A=0146 (563/3854,ALSPAC)
A=0136 (504/3708,TWINSUK)
chr3:47829 (GRCh38.p7) (3p26.3)
AD
GWASCatalog
1   publication(s)
See rs on genome
67 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.47829A>C
GRCh37.p13 chr 3NC_000003.11:g.89511C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.846A==0.154
1000GenomesAmericanSub694C=0.780A==0.220
1000GenomesEast AsianSub1008C=0.620A==0.380
1000GenomesEuropeSub1006C=0.852A==0.148
1000GenomesGlobalStudy-wide5008C=0.769A==0.231
1000GenomesSouth AsianSub978C=0.720A==0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.854A==0.146
The Genome Aggregation DatabaseAfricanSub8704C=0.858A==0.142
The Genome Aggregation DatabaseAmericanSub836C=0.750A==0.250
The Genome Aggregation DatabaseEast AsianSub1602C=0.583A==0.417
The Genome Aggregation DatabaseEuropeSub18472C=0.851A==0.148
The Genome Aggregation DatabaseGlobalStudy-wide29916C=0.836A==0.164
The Genome Aggregation DatabaseOtherSub302C=0.830A==0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.849A==0.150
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.864A==0.136
PMID Title Author Journal
29082582Problematic alcohol use associates with sodium channel and clathrin linker 1 (SCLT1) in trauma-exposed populations.Almli LMAddict Biol

P-Value

SNP ID p-value Traits Study
rs9916391E-06alcohol dependence29082582

eQTL of rs991639 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 rs991639 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 )
chr3104810105451E06715299
chr3114174114280E06724663
chr3114437114799E06724926
chr3114174114280E06824663
chr3114437114799E06824926
chr3114802115003E06825291
chr3115137115254E06825626
chr3115361115440E06825850
chr3104810105451E06915299
chr3105525105633E06916014
chr3114174114280E06924663
chr3114437114799E06924926
chr3114802115003E06925291
chr3115137115254E06925626
chr3115361115440E06925850
chr3114174114280E07024663
chr3114437114799E07024926
chr3114802115003E07025291
chr3115137115254E07025626
chr3115361115440E07025850
chr3116283116363E07026772
chr3116414116901E07026903
chr3117032117204E07027521
chr3117319117416E07027808
chr3117466117544E07027955
chr3123630123786E07034119
chr3123847123912E07034336
chr3124839125153E07035328
chr3139183139333E07049672
chr3104810105451E07115299
chr3105525105633E07116014
chr3114174114280E07124663
chr3114437114799E07124926
chr3114802115003E07125291
chr3115137115254E07125626
chr3105525105633E07216014
chr3114174114280E07224663
chr3114437114799E07224926
chr3114802115003E07225291
chr3115137115254E07225626
chr3115361115440E07225850
chr3111467111643E07421956
chr3114437114799E07424926
chr3114802115003E07425291
chr3115137115254E07425626
chr3115361115440E07425850
chr38431584369E081-5142
chr38610586168E081-3343
chr3104810105451E08115299
chr3105525105633E08116014
chr3114437114799E08124926
chr3114802115003E08125291
chr3115137115254E08125626
chr3115361115440E08125850
chr3123630123786E08134119
chr3139183139333E08149672
chr38431584369E082-5142
chr3104810105451E08215299
chr3105525105633E08216014
chr3114437114799E08224926
chr3114802115003E08225291
chr3115137115254E08225626
chr3115361115440E08225850
chr3117032117204E08227521
chr3117319117416E08227808
chr3117466117544E08227955
chr3139183139333E08249672