rs2950347

Homo sapiens
T>G
LOC105379330 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0149 (4472/29918,GnomAD)
T==0131 (3836/29118,TOPMED)
T==0163 (814/5008,1000G)
T==0168 (648/3854,ALSPAC)
T==0171 (633/3708,TWINSUK)
chr8:25005194 (GRCh38.p7) (8p21.2)
ND
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.25005194T>G
GRCh37.p13 chr 8NC_000008.10:g.24862709T>G

Gene: LOC105379330, uncharacterized LOC105379330(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105379330 transcriptXR_949591.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.072G=0.928
1000GenomesAmericanSub694T=0.120G=0.880
1000GenomesEast AsianSub1008T=0.223G=0.777
1000GenomesEuropeSub1006T=0.191G=0.809
1000GenomesGlobalStudy-wide5008T=0.163G=0.837
1000GenomesSouth AsianSub978T=0.230G=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.168G=0.832
The Genome Aggregation DatabaseAfricanSub8714T=0.090G=0.910
The Genome Aggregation DatabaseAmericanSub836T=0.100G=0.900
The Genome Aggregation DatabaseEast AsianSub1612T=0.231G=0.769
The Genome Aggregation DatabaseEuropeSub18456T=0.172G=0.827
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.149G=0.850
The Genome Aggregation DatabaseOtherSub300T=0.170G=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.131G=0.868
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.171G=0.829
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs29503475.28E-05alcohol and nictotine co-dependence20158304

eQTL of rs2950347 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 rs2950347 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 )
chr82488062624880854E07017917
chr82490830724909087E07045598
chr82490830724909087E07145598
chr82481803324818344E082-44365
chr82481841724818610E082-44099
chr82481887724819103E082-43606
chr82481921624819256E082-43453
chr82481928624819341E082-43368
chr82490830724909087E08245598



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr82485653824859201E067-3508
chr82485921124859522E067-3187
chr82485653824859201E068-3508
chr82485921124859522E068-3187
chr82485921124859522E071-3187
chr82485653824859201E072-3508
chr82485921124859522E072-3187
chr82485952924859711E072-2998
chr82485653824859201E073-3508
chr82485653824859201E074-3508
chr82485653824859201E082-3508