rs11749731

Homo sapiens
A>C / A>G
NDFIP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0328 (9842/29938,GnomAD)
A==0311 (9063/29118,TOPMED)
A==0335 (1676/5008,1000G)
A==0388 (1495/3854,ALSPAC)
A==0382 (1417/3708,TWINSUK)
chr5:142120871 (GRCh38.p7) (5q31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.142120871A>C
GRCh38.p7 chr 5NC_000005.10:g.142120871A>G
GRCh37.p13 chr 5NC_000005.9:g.141500436A>C
GRCh37.p13 chr 5NC_000005.9:g.141500436A>G

Gene: NDFIP1, Nedd4 family interacting protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NDFIP1 transcriptNM_030571.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.197C=0.803
1000GenomesAmericanSub694A=0.310C=0.690
1000GenomesEast AsianSub1008A=0.363C=0.637
1000GenomesEuropeSub1006A=0.380C=0.620
1000GenomesGlobalStudy-wide5008A=0.335C=0.665
1000GenomesSouth AsianSub978A=0.460C=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.388C=0.612
The Genome Aggregation DatabaseAfricanSub8718A=0.234C=0.766
The Genome Aggregation DatabaseAmericanSub836A=0.310C=0.69,
The Genome Aggregation DatabaseEast AsianSub1620A=0.349C=0.651
The Genome Aggregation DatabaseEuropeSub18462A=0.373C=0.626
The Genome Aggregation DatabaseGlobalStudy-wide29938A=0.328C=0.671
The Genome Aggregation DatabaseOtherSub302A=0.280C=0.72,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.311C=0.688
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.382C=0.618
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs117497310.000804alcohol dependence20201924

eQTL of rs11749731 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 rs11749731 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 )
chr56882651768827134E068-34138
chr56882731168827361E068-33911
chr56882746068827510E068-33762
chr56882651768827134E071-34138
chr56882731168827361E071-33911
chr56882746068827510E071-33762


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr56885573168855924E067-5348
chr56885597268856168E067-5104
chr56885656868856618E067-4654
chr56885686968856960E067-4312
chr56885573168855924E068-5348
chr56885597268856168E068-5104
chr56885656868856618E068-4654
chr56885686968856960E068-4312
chr56885573168855924E069-5348
chr56885597268856168E069-5104
chr56885656868856618E069-4654
chr56885686968856960E069-4312
chr56885573168855924E070-5348
chr56885597268856168E070-5104
chr56885656868856618E070-4654
chr56885686968856960E070-4312
chr56885573168855924E071-5348
chr56885597268856168E071-5104
chr56885656868856618E071-4654
chr56885686968856960E071-4312
chr56885573168855924E072-5348
chr56885597268856168E072-5104
chr56885656868856618E072-4654
chr56885686968856960E072-4312
chr56885573168855924E073-5348
chr56885597268856168E073-5104
chr56885656868856618E073-4654
chr56885686968856960E073-4312
chr56885573168855924E074-5348
chr56885597268856168E074-5104
chr56885656868856618E074-4654
chr56885686968856960E074-4312
chr56885573168855924E082-5348
chr56885597268856168E082-5104
chr56885656868856618E082-4654
chr56885686968856960E082-4312