rs12698891

Homo sapiens
A>G
AUTS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0104 (3124/29980,GnomAD)
G=0099 (2899/29118,TOPMED)
G=0102 (512/5008,1000G)
chr7:70300519 (GRCh38.p7) (7q11.22)
ND
GWASdb2
1   publication(s)
See rs on genome
105 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.70300519A>G
GRCh37.p13 chr 7NC_000007.13:g.69765505A>G
AUTS2 RefSeqGeneNG_034133.1:g.706601A>G

Gene: AUTS2, autism susceptibility candidate 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AUTS2 transcript variant 2NM_001127231.2:c.N/AIntron Variant
AUTS2 transcript variant 1NM_015570.3:c.N/AIntron Variant
AUTS2 transcript variant 3NM_001127232.2:c.N/AGenic Downstream Transcript Variant
AUTS2 transcript variant X1XM_011516010.2:c.N/AIntron Variant
AUTS2 transcript variant X2XM_011516011.2:c.N/AIntron Variant
AUTS2 transcript variant X3XM_011516012.2:c.N/AIntron Variant
AUTS2 transcript variant X4XM_011516013.2:c.N/AIntron Variant
AUTS2 transcript variant X5XM_011516014.2:c.N/AIntron Variant
AUTS2 transcript variant X6XM_011516017.2:c.N/AIntron Variant
AUTS2 transcript variant X7XM_011516018.2:c.N/AIntron Variant
AUTS2 transcript variant X9XM_017011951.1:c.N/AIntron Variant
AUTS2 transcript variant X8XM_005250257.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.929G=0.071
1000GenomesAmericanSub694A=0.820G=0.180
1000GenomesEast AsianSub1008A=0.932G=0.068
1000GenomesEuropeSub1006A=0.882G=0.118
1000GenomesGlobalStudy-wide5008A=0.898G=0.102
1000GenomesSouth AsianSub978A=0.890G=0.110
The Genome Aggregation DatabaseAfricanSub8726A=0.929G=0.071
The Genome Aggregation DatabaseAmericanSub838A=0.870G=0.130
The Genome Aggregation DatabaseEast AsianSub1622A=0.927G=0.073
The Genome Aggregation DatabaseEuropeSub18492A=0.879G=0.120
The Genome Aggregation DatabaseGlobalStudy-wide29980A=0.895G=0.104
The Genome Aggregation DatabaseOtherSub302A=0.870G=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.900G=0.099
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs126988910.000189nicotine smoking19268276

eQTL of rs12698891 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 rs12698891 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 )
chr76975762269758218E067-7287
chr76978555369785640E06720048
chr76978567469785724E06720169
chr76978582669785930E06720321
chr76978597169786739E06720466
chr76978770269787752E06722197
chr76978782869788242E06722323
chr76978838669788498E06722881
chr76979064769791071E06725142
chr76978282869782930E06817323
chr76978330869783378E06817803
chr76978356069783895E06818055
chr76978555369785640E06820048
chr76978567469785724E06820169
chr76978582669785930E06820321
chr76971954969719603E069-45902
chr76971969469719885E069-45620
chr76978555369785640E06920048
chr76978567469785724E06920169
chr76978582669785930E06920321
chr76978770269787752E06922197
chr76980274169802831E07037236
chr76980363269803682E07038127
chr76980597069806020E07040465
chr76980611969806186E07040614
chr76973233869732606E071-32899
chr76978555369785640E07120048
chr76978567469785724E07120169
chr76978582669785930E07120321
chr76978782869788242E07122323
chr76973233869732606E072-32899
chr76973281769732969E072-32536
chr76978517069785250E07219665
chr76978555369785640E07220048
chr76978567469785724E07220169
chr76978582669785930E07220321
chr76978597169786739E07220466
chr76972440169724475E073-41030
chr76972453869724936E073-40569
chr76978555369785640E07320048
chr76978567469785724E07320169
chr76978582669785930E07320321
chr76975721769757280E074-8225
chr76975734569757395E074-8110
chr76975762269758218E074-7287
chr76978356069783895E07418055
chr76978517069785250E07419665
chr76978555369785640E07420048
chr76978567469785724E07420169
chr76978582669785930E07420321
chr76978597169786739E07420466
chr76972307569723268E081-42237
chr76972350569723559E081-41946
chr76972440169724475E081-41030
chr76972453869724936E081-40569
chr76972519569725301E081-40204
chr76972555169725640E081-39865
chr76976388869763962E081-1543
chr76976414469764748E081-757
chr76976823869768290E0812733
chr76976837469769133E0812869
chr76978770269787752E08122197
chr76978782869788242E08122323
chr76978838669788498E08122881
chr76978855169788675E08123046
chr76978888469788938E08123379
chr76978895069789005E08123445
chr76979064769791071E08125142
chr76979128369791343E08125778
chr76979137169791567E08125866
chr76979957069799676E08134065
chr76979970469800301E08134199
chr76980543969805500E08139934
chr76980656269806745E08141057
chr76980700069807122E08141495
chr76973186069731916E082-33589
chr76973197569732025E082-33480
chr76973216469732256E082-33249
chr76973233869732606E082-32899
chr76973281769732969E082-32536
chr76973305169733154E082-32351
chr76973319569733245E082-32260
chr76973335269733407E082-32098
chr76976388869763962E082-1543
chr76976414469764748E082-757
chr76978770269787752E08222197
chr76978782869788242E08222323
chr76978855169788675E08223046
chr76979064769791071E08225142
chr76980180669801856E08236301
chr76980274169802831E08237236
chr76980297869803428E08237473
chr76980438169804431E08238876
chr76980462469804764E08239119
chr76980485869804912E08239353
chr76980543969805500E08239934
chr76980560469805679E08240099
chr76980571269805848E08240207
chr76980597069806020E08240465
chr76980611969806186E08240614
chr76980625769806297E08240752
chr76980656269806745E08241057
chr76980700069807122E08241495
chr76980856169808956E08243056
chr76980943169810081E08243926