rs908241

Homo sapiens
G>A / G>T
RPTOR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0122 (3678/29920,GnomAD)
A=0092 (2679/29118,TOPMED)
A=0167 (838/5008,1000G)
A=0137 (529/3854,ALSPAC)
A=0141 (523/3708,TWINSUK)
chr17:80861878 (GRCh38.p7) (17q25.3)
ND
GWASdb2
1   publication(s)
See rs on genome
82 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.80861878G>A
GRCh38.p7 chr 17NC_000017.11:g.80861878G>T
GRCh37.p13 chr 17NC_000017.10:g.78835678G>A
GRCh37.p13 chr 17NC_000017.10:g.78835678G>T
RPTOR RefSeqGeneNG_013034.1:g.322054G>A
RPTOR RefSeqGeneNG_013034.1:g.322054G>T

Gene: RPTOR, regulatory associated protein of MTOR complex 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RPTOR transcript variant 2NM_001163034.1:c.N/AIntron Variant
RPTOR transcript variant 1NM_020761.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.994A=0.006
1000GenomesAmericanSub694G=0.760A=0.240
1000GenomesEast AsianSub1008G=0.729A=0.271
1000GenomesEuropeSub1006G=0.868A=0.132
1000GenomesGlobalStudy-wide5008G=0.833A=0.167
1000GenomesSouth AsianSub978G=0.740A=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.863A=0.137
The Genome Aggregation DatabaseAfricanSub8716G=0.968A=0.032
The Genome Aggregation DatabaseAmericanSub838G=0.690A=0.31,
The Genome Aggregation DatabaseEast AsianSub1612G=0.664A=0.336
The Genome Aggregation DatabaseEuropeSub18452G=0.861A=0.139
The Genome Aggregation DatabaseGlobalStudy-wide29920G=0.877A=0.122
The Genome Aggregation DatabaseOtherSub302G=0.880A=0.12,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.908A=0.092
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.859A=0.141
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
rs9082410.000783nicotine smoking19268276

eQTL of rs908241 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 rs908241 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 )
chr173390376133904040E067-41718
chr173390404233904179E067-41579
chr173390421733904282E067-41476
chr173390445833904596E067-41162
chr173391632233916401E067-29357
chr173391658933916876E067-28882
chr173393461033934746E067-11012
chr173389655633896769E068-48989
chr173390404233904179E068-41579
chr173390421733904282E068-41476
chr173390445833904596E068-41162
chr173391611733916167E068-29591
chr173391632233916401E068-29357
chr173391658933916876E068-28882
chr173393262533932707E068-13051
chr173393461033934746E068-11012
chr173393517133935221E068-10537
chr173389655633896769E069-48989
chr173390404233904179E069-41579
chr173390421733904282E069-41476
chr173391611733916167E069-29591
chr173391632233916401E069-29357
chr173391658933916876E069-28882
chr173391724033917284E069-28474
chr173391755733917617E069-28141
chr173389655633896769E070-48989
chr173389697933897033E070-48725
chr173389739533897513E070-48245
chr173389760333897706E070-48052
chr173389796133898072E070-47686
chr173390404233904179E070-41579
chr173390421733904282E070-41476
chr173391611733916167E070-29591
chr173391632233916401E070-29357
chr173391658933916876E070-28882
chr173389655633896769E071-48989
chr173389697933897033E071-48725
chr173389739533897513E071-48245
chr173390421733904282E071-41476
chr173390445833904596E071-41162
chr173391632233916401E071-29357
chr173392322233923279E071-22479
chr173392328333923346E071-22412
chr173392561633925666E071-20092
chr173392570733925757E071-20001
chr173389655633896769E072-48989
chr173390404233904179E072-41579
chr173390421733904282E072-41476
chr173390445833904596E072-41162
chr173391611733916167E072-29591
chr173391632233916401E072-29357
chr173391658933916876E072-28882
chr173389655633896769E073-48989
chr173389697933897033E073-48725
chr173389739533897513E073-48245
chr173391611733916167E073-29591
chr173391632233916401E073-29357
chr173391658933916876E073-28882
chr173393262533932707E073-13051
chr173393279133933064E073-12694
chr173389655633896769E074-48989
chr173390445833904596E074-41162
chr173391611733916167E074-29591
chr173389655633896769E081-48989
chr173389697933897033E081-48725
chr173389739533897513E081-48245
chr173390445833904596E081-41162
chr173391611733916167E081-29591
chr173391632233916401E081-29357
chr173391658933916876E081-28882
chr173389655633896769E082-48989
chr173389697933897033E082-48725
chr173389739533897513E082-48245
chr173390376133904040E082-41718
chr173390404233904179E082-41579
chr173390421733904282E082-41476
chr173390445833904596E082-41162
chr173391611733916167E082-29591
chr173391632233916401E082-29357
chr173391658933916876E082-28882
chr173391724033917284E082-28474
chr173391755733917617E082-28141










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173390461033906512E067-39246
chr173391360733915274E067-30484
chr173390461033906512E068-39246
chr173391360733915274E068-30484
chr173390461033906512E069-39246
chr173391360733915274E069-30484
chr173390461033906512E070-39246
chr173391360733915274E070-30484
chr173390461033906512E071-39246
chr173391360733915274E071-30484
chr173390461033906512E072-39246
chr173391360733915274E072-30484
chr173390461033906512E073-39246
chr173391360733915274E073-30484
chr173390461033906512E074-39246
chr173391360733915274E074-30484
chr173390461033906512E081-39246
chr173391360733915274E081-30484
chr173390461033906512E082-39246
chr173391360733915274E082-30484