rs16978166

Homo sapiens
G>A
RAB37 : Intron Variant
LOC105371894 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0168 (4913/29118,TOPMED)
A=0122 (3508/28586,GnomAD)
A=0156 (781/5008,1000G)
A=0018 (71/3854,ALSPAC)
A=0021 (78/3708,TWINSUK)
chr17:74677410 (GRCh38.p7) (17q25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
22 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.74677410G>A
GRCh37.p13 chr 17NC_000017.10:g.72673549G>A

Gene: RAB37, RAB37, member RAS oncogene family(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RAB37 transcript variant 3NM_175738.4:c.N/AIntron Variant
RAB37 transcript variant 2NM_001006638.2:c.N/AGenic Upstream Transcript Variant
RAB37 transcript variant 4NM_001163989.1:c.N/AGenic Upstream Transcript Variant
RAB37 transcript variant 5NM_001163990.1:c.N/AGenic Upstream Transcript Variant
RAB37 transcript variant X1XM_005257288.4:c.N/AGenic Upstream Transcript Variant

Gene: LOC105371894, uncharacterized LOC105371894(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105371894 transcriptXR_001753013.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.616A=0.384
1000GenomesAmericanSub694G=0.810A=0.190
1000GenomesEast AsianSub1008G=0.933A=0.067
1000GenomesEuropeSub1006G=0.974A=0.026
1000GenomesGlobalStudy-wide5008G=0.844A=0.156
1000GenomesSouth AsianSub978G=0.950A=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.982A=0.018
The Genome Aggregation DatabaseAfricanSub8582G=0.671A=0.329
The Genome Aggregation DatabaseAmericanSub830G=0.790A=0.210
The Genome Aggregation DatabaseEast AsianSub1610G=0.932A=0.068
The Genome Aggregation DatabaseEuropeSub17264G=0.977A=0.022
The Genome Aggregation DatabaseGlobalStudy-wide28586G=0.877A=0.122
The Genome Aggregation DatabaseOtherSub300G=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.831A=0.168
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.979A=0.021
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs169781660.000254alcohol consumption (maxi-drinks)24277619

eQTL of rs16978166 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 rs16978166 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 )
chr177267778172677891E0674232
chr177267807572678209E0674526
chr177267828272678452E0674733
chr177267862672678738E0675077
chr177267876872678917E0675219
chr177267905772679123E0675508
chr177267367872674517E068129
chr177267452672674604E068977
chr177267367872674517E069129
chr177267828272678452E0694733
chr177267862672678738E0695077
chr177267876872678917E0695219
chr177267367872674517E070129
chr177267452672674604E070977
chr177267461072674937E0701061
chr177267367872674517E071129
chr177267778172677891E0714232
chr177267807572678209E0714526
chr177267828272678452E0714733
chr177267862672678738E0715077
chr177267876872678917E0715219
chr177267905772679123E0715508
chr177265583772655946E072-17603
chr177267367872674517E074129
chr177267461072674937E0811061
chr177267367872674517E082129
chr177267461072674937E0821061









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr177266713672667908E067-5641
chr177266792172667990E067-5559
chr177266813172668274E067-5275
chr177266832472668374E067-5175
chr177266873572668785E067-4764
chr177266713672667908E068-5641
chr177266713672667908E069-5641
chr177266792172667990E069-5559
chr177266813172668274E069-5275
chr177266713672667908E071-5641
chr177266792172667990E071-5559
chr177266813172668274E071-5275
chr177266713672667908E072-5641
chr177266792172667990E072-5559
chr177266813172668274E072-5275
chr177266832472668374E072-5175
chr177266713672667908E073-5641
chr177266792172667990E073-5559
chr177266813172668274E073-5275
chr177266832472668374E073-5175
chr177266873572668785E073-4764
chr177266713672667908E082-5641