rs2349300

Homo sapiens
T>C
RRAS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0164 (4926/29960,GnomAD)
C=0144 (4192/29118,TOPMED)
C=0160 (799/5008,1000G)
C=0111 (427/3854,ALSPAC)
C=0111 (410/3708,TWINSUK)
chr11:14352116 (GRCh38.p7) (11p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
97 Enhancers around
50 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.14352116T>C
GRCh37.p13 chr 11 fix patch HG256_PATCHNW_003871075.1:g.410200T>C
RRAS2 RefSeqGeneNG_017058.1:g.17391A>G
GRCh37.p13 chr 11NC_000011.9:g.14373662T>C

Gene: RRAS2, related RAS viral (r-ras) oncogene homolog 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RRAS2 transcript variant 2NM_001102669.2:c.N/AIntron Variant
RRAS2 transcript variant 3NM_001177314.1:c.N/AIntron Variant
RRAS2 transcript variant 4NM_001177315.1:c.N/AIntron Variant
RRAS2 transcript variant 1NM_012250.5:c.N/AIntron Variant
RRAS2 transcript variant X1XM_017017363.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.762C=0.238
1000GenomesAmericanSub694T=0.910C=0.090
1000GenomesEast AsianSub1008T=0.809C=0.191
1000GenomesEuropeSub1006T=0.873C=0.127
1000GenomesGlobalStudy-wide5008T=0.840C=0.160
1000GenomesSouth AsianSub978T=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.889C=0.111
The Genome Aggregation DatabaseAfricanSub8726T=0.800C=0.200
The Genome Aggregation DatabaseAmericanSub834T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1618T=0.814C=0.186
The Genome Aggregation DatabaseEuropeSub18480T=0.849C=0.150
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.835C=0.164
The Genome Aggregation DatabaseOtherSub302T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.856C=0.144
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.889C=0.111
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
rs23493000.000275alcohol dependence20201924

eQTL of rs2349300 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 rs2349300 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 )
chr11371159371508E067-38692
chr11373524373653E067-36547
chr11373706373842E067-36358
chr11373933374381E067-35819
chr11374494374544E067-35656
chr11449140449294E06738940
chr11451917451975E06741717
chr11371159371508E068-38692
chr11371557371756E068-38444
chr11371764372056E068-38144
chr11373382373446E068-36754
chr11373524373653E068-36547
chr11373706373842E068-36358
chr11373933374381E068-35819
chr11443545443981E06833345
chr11451917451975E06841717
chr11371159371508E069-38692
chr11371557371756E069-38444
chr11371764372056E069-38144
chr11372084372449E069-37751
chr11372467372517E069-37683
chr11372589372629E069-37571
chr11372705372755E069-37445
chr11372868372918E069-37282
chr11373092373155E069-37045
chr11373382373446E069-36754
chr11373524373653E069-36547
chr11373706373842E069-36358
chr11373933374381E069-35819
chr11375224375389E069-34811
chr11375416375564E069-34636
chr11405412405591E069-4609
chr11451917451975E06941717
chr11452027452531E06941827
chr11452536452752E06942336
chr11387566387802E070-22398
chr11387882387974E070-22226
chr11388173388259E070-21941
chr11449140449294E07038940
chr11452027452531E07041827
chr11452536452752E07042336
chr11371159371508E071-38692
chr11371557371756E071-38444
chr11371764372056E071-38144
chr11372084372449E071-37751
chr11373524373653E071-36547
chr11373706373842E071-36358
chr11451917451975E07141717
chr11452027452531E07141827
chr11371159371508E072-38692
chr11371557371756E072-38444
chr11371764372056E072-38144
chr11372084372449E072-37751
chr11373382373446E072-36754
chr11373524373653E072-36547
chr11373706373842E072-36358
chr11375224375389E072-34811
chr11375416375564E072-34636
chr11405211405360E072-4840
chr11405412405591E072-4609
chr11449140449294E07238940
chr11451917451975E07241717
chr11452027452531E07241827
chr11452536452752E07242336
chr11371557371756E073-38444
chr11371764372056E073-38144
chr11372084372449E073-37751
chr11372467372517E073-37683
chr11372589372629E073-37571
chr11372705372755E073-37445
chr11372868372918E073-37282
chr11373092373155E073-37045
chr11373382373446E073-36754
chr11373524373653E073-36547
chr11373706373842E073-36358
chr11373933374381E073-35819
chr11374494374544E073-35656
chr11375416375564E073-34636
chr11375787376003E073-34197
chr11373706373842E074-36358
chr11373933374381E074-35819
chr11374494374544E074-35656
chr11449140449294E07438940
chr11451917451975E07441717
chr11371159371508E081-38692
chr11371557371756E081-38444
chr11371764372056E081-38144
chr11372084372449E081-37751
chr11449140449294E08138940
chr11451917451975E08141717
chr11452027452531E08141827
chr11372084372449E082-37751
chr11372467372517E082-37683
chr11372589372629E082-37571
chr11451917451975E08241717
chr11452027452531E08241827
chr11452536452752E08242336










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11368932369004E067-41196
chr11370057370956E067-39244
chr11447922449037E06737722
chr11449822451623E06739622
chr11368932369004E068-41196
chr11369769370052E068-40148
chr11370057370956E068-39244
chr11414368418062E0684168
chr11447922449037E06837722
chr11449822451623E06839622
chr11368932369004E069-41196
chr11369769370052E069-40148
chr11370057370956E069-39244
chr11447922449037E06937722
chr11449822451623E06939622
chr11368932369004E070-41196
chr11369056369084E070-41116
chr11369098369261E070-40939
chr11369300369768E070-40432
chr11369769370052E070-40148
chr11370057370956E070-39244
chr11447922449037E07037722
chr11449822451623E07039622
chr11370057370956E071-39244
chr11447922449037E07137722
chr11449822451623E07139622
chr11368932369004E072-41196
chr11369769370052E072-40148
chr11370057370956E072-39244
chr11447922449037E07237722
chr11449822451623E07239622
chr11368932369004E073-41196
chr11369769370052E073-40148
chr11370057370956E073-39244
chr11447922449037E07337722
chr11449822451623E07339622
chr11368932369004E074-41196
chr11370057370956E074-39244
chr11447922449037E07437722
chr11449822451623E07439622
chr11368932369004E081-41196
chr11449822451623E08139622
chr11368932369004E082-41196
chr11369056369084E082-41116
chr11369098369261E082-40939
chr11369300369768E082-40432
chr11369769370052E082-40148
chr11370057370956E082-39244
chr11447922449037E08237722
chr11449822451623E08239622