rs11150884

Homo sapiens
T>C
RPH3AL : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0062 (1858/29850,GnomAD)
C=0061 (1784/29118,TOPMED)
C=0042 (211/5008,1000G)
C=0067 (259/3854,ALSPAC)
C=0073 (271/3708,TWINSUK)
chr17:212735 (GRCh38.p7) (17p13.3)
ND
GWASdb2
1   publication(s)
See rs on genome
176 Enhancers around
37 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.212735T>C
GRCh37.p13 chr 17 fix patch HG417_PATCHNW_004070872.2:g.152733T>C
RPH3AL RefSeqGeneNG_023031.1:g.145108A>G
GRCh38.p7 chr 17 alt locus HSCHR17_1_CTG1NW_003315952.3:g.157777T>C
GRCh37.p13 chr 17NC_000017.10:g.62526T>C

Gene: RPH3AL, rabphilin 3A-like (without C2 domains)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RPH3AL transcript variant 1NM_006987.3:c.N/A3 Prime UTR Variant
RPH3AL transcript variant 2NM_001190411.1:c.N/A3 Prime UTR Variant
RPH3AL transcript variant 3NM_001190412.1:c.N/A3 Prime UTR Variant
RPH3AL transcript variant 4NM_001190413.1:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X1XM_011535364.2:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X2XM_011535365.2:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X3XM_011535366.2:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X4XM_011535367.2:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X5XM_011535368.2:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X6XM_017025367.1:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X7XM_017025368.1:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X8XM_011535369.2:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X9XM_017025369.1:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X10XM_017025370.1:c.N/A3 Prime UTR Variant
RPH3AL transcript variant X13XM_017025371.1:c.N/AGenic Downstream Transcript Variant
RPH3AL transcript variant X11XR_001752693.1:n....XR_001752693.1:n.2102A>GA>GNon Coding Transcript Variant
RPH3AL transcript variant X12XR_001752694.1:n....XR_001752694.1:n.1953A>GA>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.949C=0.051
1000GenomesAmericanSub694T=0.970C=0.030
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.943C=0.057
1000GenomesGlobalStudy-wide5008T=0.958C=0.042
1000GenomesSouth AsianSub978T=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.933C=0.067
The Genome Aggregation DatabaseAfricanSub8668T=0.945C=0.055
The Genome Aggregation DatabaseAmericanSub838T=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1616T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18426T=0.927C=0.072
The Genome Aggregation DatabaseGlobalStudy-wide29850T=0.937C=0.062
The Genome Aggregation DatabaseOtherSub302T=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.938C=0.061
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.927C=0.073
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
rs111508840.000316nicotine smoking19268276

eQTL of rs11150884 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 rs11150884 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 )
chr17159698160308E0676965
chr17183384183538E06730651
chr17183551183753E06730818
chr17199545200096E06746812
chr17115542116033E068-36700
chr17157463158121E0684730
chr17158129158233E0685396
chr17183029183198E06830296
chr17198482199270E06845749
chr17199319199373E06846586
chr17199545200096E06846812
chr17200332201485E06847599
chr17115542116033E069-36700
chr17116041116095E069-36638
chr17116375116457E069-36276
chr17154074154717E0691341
chr17159037159645E0696304
chr17159698160308E0696965
chr17160355160628E0697622
chr17180231180428E06927498
chr17180504180558E06927771
chr17183029183198E06930296
chr17183384183538E06930651
chr17183551183753E06930818
chr17184432184489E06931699
chr17188389188627E06935656
chr17200332201485E06947599
chr17109180109478E070-43255
chr17109497110447E070-42286
chr17110526110586E070-42147
chr17110611110661E070-42072
chr17110690110745E070-41988
chr17115542116033E070-36700
chr17116041116095E070-36638
chr17116375116457E070-36276
chr17116483116740E070-35993
chr17116772116886E070-35847
chr17116921117586E070-35147
chr17117588117722E070-35011
chr17154814155468E0702081
chr17155846155935E0703113
chr17156007156062E0703274
chr17156114156164E0703381
chr17156224156358E0703491
chr17156366156602E0703633
chr17159037159645E0706304
chr17159698160308E0706965
chr17160355160628E0707622
chr17160770161331E0708037
chr17161375161913E0708642
chr17183551183753E07030818
chr17185438185825E07032705
chr17185871186548E07033138
chr17186583186743E07033850
chr17109180109478E071-43255
chr17109497110447E071-42286
chr17116483116740E071-35993
chr17116772116886E071-35847
chr17116921117586E071-35147
chr17117588117722E071-35011
chr17157463158121E0714730
chr17158129158233E0715396
chr17158357158413E0715624
chr17158525158575E0715792
chr17159037159645E0716304
chr17159698160308E0716965
chr17180231180428E07127498
chr17180504180558E07127771
chr17183029183198E07130296
chr17183384183538E07130651
chr17183551183753E07130818
chr17199545200096E07146812
chr17200194200234E07147461
chr17200332201485E07147599
chr17115542116033E072-36700
chr17116041116095E072-36638
chr17116375116457E072-36276
chr17116483116740E072-35993
chr17116772116886E072-35847
chr17116921117586E072-35147
chr17117588117722E072-35011
chr17154074154717E0721341
chr17159037159645E0726304
chr17159698160308E0726965
chr17160355160628E0727622
chr17160770161331E0728037
chr17184432184489E07231699
chr17184770185216E07232037
chr17185438185825E07232705
chr17116041116095E073-36638
chr17116375116457E073-36276
chr17116483116740E073-35993
chr17116772116886E073-35847
chr17116921117586E073-35147
chr17119442119492E073-33241
chr17119546119596E073-33137
chr17146258146379E073-6354
chr17146566146616E073-6117
chr17158989159033E0736256
chr17159037159645E0736304
chr17159698160308E0736965
chr17184432184489E07331699
chr17184770185216E07332037
chr17199545200096E07346812
chr17116921117586E074-35147
chr17117588117722E074-35011
chr17180231180428E07427498
chr17180504180558E07427771
chr17183029183198E07430296
chr17183384183538E07430651
chr17184432184489E07431699
chr17199545200096E07446812
chr17200194200234E07447461
chr17200332201485E07447599
chr17108399108489E081-44244
chr17109180109478E081-43255
chr17109497110447E081-42286
chr17110526110586E081-42147
chr17110611110661E081-42072
chr17110690110745E081-41988
chr17115542116033E081-36700
chr17116041116095E081-36638
chr17116375116457E081-36276
chr17116483116740E081-35993
chr17116772116886E081-35847
chr17116921117586E081-35147
chr17117588117722E081-35011
chr17119442119492E081-33241
chr17119546119596E081-33137
chr17119787120156E081-32577
chr17130836130923E081-21810
chr17131010131050E081-21683
chr17131253131303E081-21430
chr17140172140247E081-12486
chr17140266140353E081-12380
chr17140504140619E081-12114
chr17140646140697E081-12036
chr17142007142057E081-10676
chr17142462143207E081-9526
chr17157341157434E0814608
chr17157463158121E0814730
chr17159037159645E0816304
chr17159698160308E0816965
chr17160355160628E0817622
chr17160770161331E0818037
chr17171258172015E08118525
chr17172107172290E08119374
chr17172761172801E08120028
chr17180231180428E08127498
chr17180504180558E08127771
chr17184770185216E08132037
chr17185240185316E08132507
chr17185340185390E08132607
chr17185438185825E08132705
chr17187268187643E08134535
chr17109180109478E082-43255
chr17109497110447E082-42286
chr17110526110586E082-42147
chr17115319115369E082-37364
chr17115542116033E082-36700
chr17116041116095E082-36638
chr17116375116457E082-36276
chr17116483116740E082-35993
chr17116772116886E082-35847
chr17116921117586E082-35147
chr17117588117722E082-35011
chr17119442119492E082-33241
chr17119546119596E082-33137
chr17119787120156E082-32577
chr17120357120437E082-32296
chr17142007142057E082-10676
chr17159698160308E0826965
chr17160355160628E0827622
chr17172107172290E08219374
chr17185438185825E08232705
chr17185871186548E08233138










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr17181153181448E06728420
chr17181626181692E06728893
chr17181757181878E06729024
chr17181923182203E06729190
chr17183766184305E06731033
chr17181153181448E06828420
chr17181626181692E06828893
chr17181757181878E06829024
chr17181923182203E06829190
chr17182231182953E06829498
chr17183766184305E06831033
chr17181153181448E06928420
chr17181626181692E06928893
chr17181757181878E06929024
chr17181923182203E06929190
chr17183766184305E06931033
chr17181153181448E07128420
chr17181626181692E07128893
chr17181757181878E07129024
chr17183766184305E07131033
chr17181153181448E07228420
chr17181626181692E07228893
chr17181757181878E07229024
chr17181923182203E07229190
chr17182231182953E07229498
chr17183766184305E07231033
chr17181153181448E07328420
chr17181626181692E07328893
chr17181757181878E07329024
chr17181923182203E07329190
chr17182231182953E07329498
chr17183766184305E07331033
chr17181153181448E07428420
chr17181626181692E07428893
chr17181757181878E07429024
chr17181923182203E07429190
chr17183766184305E07431033