rs4074967

Homo sapiens
T>C / T>G
NTF3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0135 (4073/29984,GnomAD)
G=0137 (684/5008,1000G)
G=0152 (584/3854,ALSPAC)
G=0141 (521/3708,TWINSUK)
chr12:5491300 (GRCh38.p7) (12p13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.5491300T>C
GRCh38.p7 chr 12NC_000012.12:g.5491300T>G
GRCh37.p13 chr 12NC_000012.11:g.5600466T>C
GRCh37.p13 chr 12NC_000012.11:g.5600466T>G

Gene: NTF3, neurotrophin 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NTF3 transcript variant 1NM_001102654.1:c.N/AIntron Variant
NTF3 transcript variant 2NM_002527.4:c.N/AGenic Upstream Transcript Variant
NTF3 transcript variant X1XM_011520963.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.852G=0.148
1000GenomesAmericanSub694T=0.840G=0.160
1000GenomesEast AsianSub1008T=0.889G=0.111
1000GenomesEuropeSub1006T=0.877G=0.123
1000GenomesGlobalStudy-wide5008T=0.863G=0.137
1000GenomesSouth AsianSub978T=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.848G=0.152
The Genome Aggregation DatabaseAfricanSub8724T=0.853G=0.147
The Genome Aggregation DatabaseAmericanSub836T=0.840G=0.160
The Genome Aggregation DatabaseEast AsianSub1622T=0.895G=0.105
The Genome Aggregation DatabaseEuropeSub18500T=0.867G=0.132
The Genome Aggregation DatabaseGlobalStudy-wide29984T=0.864G=0.135
The Genome Aggregation DatabaseOtherSub302T=0.870G=0.130
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.859G=0.141
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs40749675.6E-05alcoholism (heaviness of drinking)21529783

eQTL of rs4074967 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 rs4074967 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 )
chr122079916420799624E068-27575
chr122079968820799830E068-27369
chr122083368020834207E0686481
chr122084920620849431E07022007
chr122078435320784418E071-42781
chr122078450820784571E071-42628
chr122081053720810675E071-16524
chr122081071820810783E071-16416
chr122083368020834207E0716481
chr122083425020834349E0717051
chr122079916420799624E074-27575
chr122079968820799830E074-27369
chr122083368020834207E0746481
chr122083425020834349E0747051
chr122083368020834207E0816481





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr122085079920850898E06723600
chr122085121020851254E06724011
chr122084945920849850E06822260
chr122084945920849850E07122260
chr122084945920849850E07322260
chr122084945920849850E08222260
chr122085079920850898E08223600
chr122085121020851254E08224011