rs10775349

Homo sapiens
G>C
ADCY9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0287 (8609/29960,GnomAD)
G==0395 (11503/29118,TOPMED)
G==0304 (1523/5008,1000G)
G==0109 (420/3854,ALSPAC)
G==0112 (417/3708,TWINSUK)
chr16:4029822 (GRCh38.p7) (16p13.3)
AD
GWASdb2
8   publication(s)
See rs on genome
98 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.4029822G>C
GRCh37.p13 chr 16NC_000016.9:g.4079823G>C
ADCY9 RefSeqGeneNG_011434.1:g.91364C>G

Gene: ADCY9, adenylate cyclase 9(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADCY9 transcriptNM_001116.3:c.N/AIntron Variant
ADCY9 transcript variant X1XM_005255079.3:c.N/AIntron Variant
ADCY9 transcript variant X2XM_011522353.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.815C=0.185
1000GenomesAmericanSub694G=0.260C=0.740
1000GenomesEast AsianSub1008G=0.070C=0.930
1000GenomesEuropeSub1006G=0.107C=0.893
1000GenomesGlobalStudy-wide5008G=0.304C=0.696
1000GenomesSouth AsianSub978G=0.080C=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.109C=0.891
The Genome Aggregation DatabaseAfricanSub8708G=0.711C=0.289
The Genome Aggregation DatabaseAmericanSub836G=0.260C=0.740
The Genome Aggregation DatabaseEast AsianSub1622G=0.045C=0.955
The Genome Aggregation DatabaseEuropeSub18492G=0.111C=0.888
The Genome Aggregation DatabaseGlobalStudy-wide29960G=0.287C=0.712
The Genome Aggregation DatabaseOtherSub302G=0.220C=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.395C=0.605
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.112C=0.888
PMID Title Author Journal
21867552Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites.Diakite MMalar J
22832513Apolipoprotein L1 gene variants associate with hypertension-attributed nephropathy and the rate of kidney function decline in African Americans.Lipkowitz MSKidney Int
20386734Further evidence supporting a role for gs signal transduction in severe malaria pathogenesis.Auburn SPLoS One
22905743Genetic polymorphisms associated with anti-malarial antibody levels in a low and unstable malaria transmission area in southern Sri Lanka.Dewasurendra RLMalar J
22957039Candidate polymorphisms and severe malaria in a Malian population.Toure OPLoS One
24934404Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.Apinjoh TOMalar J
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
20459687Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.Eid NAMalar J

P-Value

SNP ID p-value Traits Study
rs107753490.000613alcohol dependence21314694

eQTL of rs10775349 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 rs10775349 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 )
chr1640488094050333E067-29490
chr1640563304056607E067-23216
chr1640567184056840E067-22983
chr1640945424095399E06714719
chr1640975394097637E06717716
chr1640976934097772E06717870
chr1640979034098151E06718080
chr1640986204098721E06718797
chr1641020544102287E06722231
chr1641023064102395E06722483
chr1640488094050333E068-29490
chr1640567184056840E068-22983
chr1640684824068873E068-10950
chr1640975394097637E06817716
chr1640976934097772E06817870
chr1640979034098151E06818080
chr1640982754098522E06818452
chr1640986204098721E06818797
chr1640988414099161E06819018
chr1640992234099333E06819400
chr1641020544102287E06822231
chr1641023064102395E06822483
chr1640328974033634E069-46189
chr1640488094050333E069-29490
chr1640503554050523E069-29300
chr1640974564097515E06917633
chr1640975394097637E06917716
chr1640976934097772E06917870
chr1640979034098151E06918080
chr1640982754098522E06918452
chr1640986204098721E06918797
chr1640988414099161E06919018
chr1641017174101958E06921894
chr1641020544102287E06922231
chr1641023064102395E06922483
chr1640383754038425E070-41398
chr1640388564039158E070-40665
chr1640392084039254E070-40569
chr1640396954039745E070-40078
chr1640397614040144E070-39679
chr1640401594040209E070-39614
chr1640403994040449E070-39374
chr1640488094050333E070-29490
chr1640982754098522E07018452
chr1640986204098721E07018797
chr1640988414099161E07019018
chr1640992234099333E07019400
chr1640503554050523E071-29300
chr1640979034098151E07118080
chr1640982754098522E07118452
chr1640986204098721E07118797
chr1640988414099161E07119018
chr1641017174101958E07121894
chr1641020544102287E07122231
chr1641023064102395E07122483
chr1641067144106764E07126891
chr1640328974033634E072-46189
chr1640488094050333E072-29490
chr1640747704074810E072-5013
chr1641017174101958E07221894
chr1641020544102287E07222231
chr1641023064102395E07222483
chr1641048414105278E07225018
chr1640563304056607E073-23216
chr1640567184056840E073-22983
chr1640684824068873E073-10950
chr1640979034098151E07318080
chr1640982754098522E07318452
chr1640986204098721E07318797
chr1640988414099161E07319018
chr1641020544102287E07322231
chr1641023064102395E07322483
chr1640488094050333E074-29490
chr1640556414056156E074-23667
chr1640563304056607E074-23216
chr1640979034098151E07418080
chr1640982754098522E07418452
chr1640986204098721E07418797
chr1641017174101958E07421894
chr1641020544102287E07422231
chr1641023064102395E07422483
chr1640383754038425E081-41398
chr1640388564039158E081-40665
chr1640392084039254E081-40569
chr1640488094050333E081-29490
chr1640503554050523E081-29300
chr1640505744050974E081-28849
chr1640510194051239E081-28584
chr1640513114051366E081-28457
chr1640577104057754E081-22069
chr1640577594058209E081-21614
chr1640582754058337E081-21486
chr1640583894058495E081-21328
chr1640587654058815E081-21008
chr1640684824068873E081-10950
chr1640488094050333E082-29490
chr1640503554050523E082-29300
chr1640505744050974E082-28849










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1641148584115377E06835035
chr1641148584115377E07135035